Parkinsonism and dystonia: Clinical spectrum and diagnostic clues
The links between the two archetypical basal ganglia disorders, dystonia and parkinsonism, are manifold and stem from clinical observations, imaging studies, animal models and genetics. The combination of both, i.e. the syndrome of dystonia-parkinsonism, is not uncommonly seen in movement disorders...
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| Vydáno v: | Journal of the neurological sciences Ročník 433; s. 120016 |
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| Hlavní autoři: | , , , |
| Médium: | Journal Article |
| Jazyk: | angličtina |
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Netherlands
Elsevier B.V
15.02.2022
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| ISSN: | 0022-510X, 1878-5883, 1878-5883 |
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| Abstract | The links between the two archetypical basal ganglia disorders, dystonia and parkinsonism, are manifold and stem from clinical observations, imaging studies, animal models and genetics. The combination of both, i.e. the syndrome of dystonia-parkinsonism, is not uncommonly seen in movement disorders clinics and has a myriad of different underlying aetiologies, upon which treatment and prognosis depend. Based on a comprehensive literature review, we delineate the clinical spectrum of disorders presenting with dystonia-parkinsonism. The clinical approach depends primarily on the age at onset, associated neurological or systemic symptoms and neuroimaging. The tempo of disease progression, and the response to L-dopa are further important clues to tailor diagnostic approaches that may encompass dopamine transporter imaging, CSF analysis and, last but not least, genetic testing. Later in life, sporadic neurodegenerative conditions are the most frequent cause, but the younger the patient, the more likely the cause is unravelled by the recent advances of molecular genetics that are focus of this review. Here, knowledge of the associated phenotypic spectrum is key to guide genetic testing and interpretation of test results.
This article is part of the Special Issue "Parkinsonism across the spectrum of movement disorders and beyond" edited by Joseph Jankovic, Daniel D. Truong and Matteo Bologna.
•Dystonia and parkinsonism share common pathophysiological links.•The syndrome of dystonia-parkinsonism has many different aetiologies.•Particularly the spectrum of its genetic aetiologies keeps expanding. |
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| AbstractList | The links between the two archetypical basal ganglia disorders, dystonia and parkinsonism, are manifold and stem from clinical observations, imaging studies, animal models and genetics. The combination of both, i.e. the syndrome of dystonia-parkinsonism, is not uncommonly seen in movement disorders clinics and has a myriad of different underlying aetiologies, upon which treatment and prognosis depend. Based on a comprehensive literature review, we delineate the clinical spectrum of disorders presenting with dystonia-parkinsonism. The clinical approach depends primarily on the age at onset, associated neurological or systemic symptoms and neuroimaging. The tempo of disease progression, and the response to L-dopa are further important clues to tailor diagnostic approaches that may encompass dopamine transporter imaging, CSF analysis and, last but not least, genetic testing. Later in life, sporadic neurodegenerative conditions are the most frequent cause, but the younger the patient, the more likely the cause is unravelled by the recent advances of molecular genetics that are focus of this review. Here, knowledge of the associated phenotypic spectrum is key to guide genetic testing and interpretation of test results.
This article is part of the Special Issue "Parkinsonism across the spectrum of movement disorders and beyond" edited by Joseph Jankovic, Daniel D. Truong and Matteo Bologna.
•Dystonia and parkinsonism share common pathophysiological links.•The syndrome of dystonia-parkinsonism has many different aetiologies.•Particularly the spectrum of its genetic aetiologies keeps expanding. The links between the two archetypical basal ganglia disorders, dystonia and parkinsonism, are manifold and stem from clinical observations, imaging studies, animal models and genetics. The combination of both, i.e. the syndrome of dystonia-parkinsonism, is not uncommonly seen in movement disorders clinics and has a myriad of different underlying aetiologies, upon which treatment and prognosis depend. Based on a comprehensive literature review, we delineate the clinical spectrum of disorders presenting with dystonia-parkinsonism. The clinical approach depends primarily on the age at onset, associated neurological or systemic symptoms and neuroimaging. The tempo of disease progression, and the response to L-dopa are further important clues to tailor diagnostic approaches that may encompass dopamine transporter imaging, CSF analysis and, last but not least, genetic testing. Later in life, sporadic neurodegenerative conditions are the most frequent cause, but the younger the patient, the more likely the cause is unravelled by the recent advances of molecular genetics that are focus of this review. Here, knowledge of the associated phenotypic spectrum is key to guide genetic testing and interpretation of test results. This article is part of the Special Issue "Parkinsonism across the spectrum of movement disorders and beyond" edited by Joseph Jankovic, Daniel D. Truong and Matteo Bologna. The links between the two archetypical basal ganglia disorders, dystonia and parkinsonism, are manifold and stem from clinical observations, imaging studies, animal models and genetics. The combination of both, i.e. the syndrome of dystonia-parkinsonism, is not uncommonly seen in movement disorders clinics and has a myriad of different underlying aetiologies, upon which treatment and prognosis depend. Based on a comprehensive literature review, we delineate the clinical spectrum of disorders presenting with dystonia-parkinsonism. The clinical approach depends primarily on the age at onset, associated neurological or systemic symptoms and neuroimaging. The tempo of disease progression, and the response to L-dopa are further important clues to tailor diagnostic approaches that may encompass dopamine transporter imaging, CSF analysis and, last but not least, genetic testing. Later in life, sporadic neurodegenerative conditions are the most frequent cause, but the younger the patient, the more likely the cause is unravelled by the recent advances of molecular genetics that are focus of this review. Here, knowledge of the associated phenotypic spectrum is key to guide genetic testing and interpretation of test results. This article is part of the Special Issue "Parkinsonism across the spectrum of movement disorders and beyond" edited by Joseph Jankovic, Daniel D. Truong and Matteo Bologna.The links between the two archetypical basal ganglia disorders, dystonia and parkinsonism, are manifold and stem from clinical observations, imaging studies, animal models and genetics. The combination of both, i.e. the syndrome of dystonia-parkinsonism, is not uncommonly seen in movement disorders clinics and has a myriad of different underlying aetiologies, upon which treatment and prognosis depend. Based on a comprehensive literature review, we delineate the clinical spectrum of disorders presenting with dystonia-parkinsonism. The clinical approach depends primarily on the age at onset, associated neurological or systemic symptoms and neuroimaging. The tempo of disease progression, and the response to L-dopa are further important clues to tailor diagnostic approaches that may encompass dopamine transporter imaging, CSF analysis and, last but not least, genetic testing. Later in life, sporadic neurodegenerative conditions are the most frequent cause, but the younger the patient, the more likely the cause is unravelled by the recent advances of molecular genetics that are focus of this review. Here, knowledge of the associated phenotypic spectrum is key to guide genetic testing and interpretation of test results. This article is part of the Special Issue "Parkinsonism across the spectrum of movement disorders and beyond" edited by Joseph Jankovic, Daniel D. Truong and Matteo Bologna. AbstractThe links between the two archetypical basal ganglia disorders, dystonia and parkinsonism, are manifold and stem from clinical observations, imaging studies, animal models and genetics. The combination of both, i.e. the syndrome of dystonia-parkinsonism, is not uncommonly seen in movement disorders clinics and has a myriad of different underlying aetiologies, upon which treatment and prognosis depend. Based on a comprehensive literature review, we delineate the clinical spectrum of disorders presenting with dystonia-parkinsonism. The clinical approach depends primarily on the age at onset, associated neurological or systemic symptoms and neuroimaging. The tempo of disease progression, and the response to L-dopa are further important clues to tailor diagnostic approaches that may encompass dopamine transporter imaging, CSF analysis and, last but not least, genetic testing. Later in life, sporadic neurodegenerative conditions are the most frequent cause, but the younger the patient, the more likely the cause is unravelled by the recent advances of molecular genetics that are focus of this review. Here, knowledge of the associated phenotypic spectrum is key to guide genetic testing and interpretation of test results. This article is part of the Special Issue "Parkinsonism across the spectrum of movement disorders and beyond" edited by Joseph Jankovic, Daniel D. Truong and Matteo Bologna. |
| ArticleNumber | 120016 |
| Author | Fung, Victor S.C. Bhatia, Kailash P. Balint, Bettina Morales-Briceno, Hugo |
| Author_xml | – sequence: 1 givenname: Hugo surname: Morales-Briceno fullname: Morales-Briceno, Hugo organization: Neurology Department, Movement Disorders Unit, Westmead Hospital, NSW, Sydney, Australia – sequence: 2 givenname: Victor S.C. surname: Fung fullname: Fung, Victor S.C. organization: Neurology Department, Movement Disorders Unit, Westmead Hospital, NSW, Sydney, Australia – sequence: 3 givenname: Kailash P. surname: Bhatia fullname: Bhatia, Kailash P. organization: UCL Queen Square Institute of Neurology Department of Clinical and Movement Neurosciences, Queen Square, London WC1N 3BG, United Kingdom – sequence: 4 givenname: Bettina surname: Balint fullname: Balint, Bettina email: dr.bettina.balint@gmail.com organization: Department of Neurology, University Hospital Heidelberg, Germany |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/34642024$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1212/NXG.0000000000000399 10.1002/mds.28063 10.1007/s10048-014-0431-z 10.1002/mds.25549 10.1007/s00415-014-7483-8 10.1002/mds.22876 10.1136/jnnp-2015-311311 10.1016/j.parkreldis.2020.08.039 10.1002/mds.27352 10.1002/mds.28356 10.1093/brain/awz261 10.1007/s10072-020-04758-y 10.1155/2015/125273 10.1002/mdc3.12747 10.1212/01.wnl.0000338144.10967.2b 10.1212/NXG.0000000000000575 10.1016/j.parkreldis.2020.07.027 10.1002/mdc3.13009 10.1093/brain/awz112 10.1212/WNL.46.1.68 10.1016/j.jns.2021.117477 10.1038/ncomms11601 10.1007/s10072-018-3247-z 10.1002/mds.10677 10.1002/ajmg.a.38288 10.1002/mds.27801 10.1016/j.jns.2014.03.057 10.1002/mds.26583 10.1007/s10048-017-0518-4 10.1016/B978-0-444-63233-3.00019-1 10.1002/mds.26876 10.1111/cge.13172 10.1002/mds.27771 10.1093/brain/awx189 10.1002/mdc3.12573 10.1093/brain/awy161 10.1002/mdc3.12861 10.1002/ana.24845 10.1016/j.jns.2017.01.043 10.1093/brain/awz344 10.1016/j.parkreldis.2018.10.013 10.1016/j.parkreldis.2018.07.006 10.1002/mds.26828 10.1002/mds.23221 10.1002/mds.27982 10.1016/j.nbd.2019.05.001 10.1002/mds.22415 10.1016/j.braindev.2020.06.011 10.1016/j.jstrokecerebrovasdis.2015.09.016 10.1002/mds.23109 10.1093/brain/awl340 10.2169/internalmedicine.54.3757 10.1016/j.jns.2017.06.034 10.1002/mdc3.12586 10.1002/humu.22372 10.1016/j.parkreldis.2019.05.001 10.1093/brain/aws256 10.1002/ana.25751 10.1016/j.ajhg.2020.02.016 10.1002/mds.26424 10.1016/j.parkreldis.2015.10.001 10.3233/JHD-160232 10.1002/mds.27334 10.1212/NXG.0000000000000543 10.1002/mds.25622 10.1136/jnnp-2013-307294 10.1001/jamaneurol.2014.3889 10.1002/mdc3.12144 10.1212/WNL.0000000000000521 10.1016/j.jstrokecerebrovasdis.2013.09.028 10.1016/j.parkreldis.2021.05.026 10.1002/mdc3.12008 10.1016/j.jns.2015.05.021 10.12688/f1000research.10588.1 10.1016/j.parkreldis.2019.07.030 10.1002/mds.25008 10.1001/jamaneurol.2016.0355 10.1136/jnnp.51.5.730 10.1002/ana.25787 10.1002/mds.28290 10.1002/mds.28289 10.1002/mds.1193 10.5334/tohm.254 10.1186/s12883-019-1586-x 10.4103/0028-3886.152678 10.1002/mds.27501 10.1111/j.1468-1331.2008.02356.x 10.3389/fneur.2019.00652 10.1038/nrneurol.2015.172 10.1017/cjn.2016.8 10.1002/mds.23956 10.1016/S1474-4422(08)70022-X 10.1016/j.parkreldis.2019.04.004 10.1136/jnnp-2018-318584 10.1684/epd.2020.1150 10.1002/1531-8257(200005)15:3<537::AID-MDS1018>3.0.CO;2-3 10.1002/mds.23548 10.1093/brain/awz345 10.1093/brain/aww180 10.1002/mds.28485 10.1002/ana.25863 10.1016/j.parkreldis.2012.11.006 10.1093/brain/aws224 10.1002/mds.870010210 10.1002/mdc3.12307 10.1002/mds.27527 10.1016/j.ajhg.2012.01.017 10.1038/s41572-018-0023-6 10.1002/mdc3.12865 10.1016/j.braindev.2020.12.009 10.1002/mds.26054 10.1007/s10048-019-00602-4 10.1016/j.parkreldis.2019.01.020 10.1007/s00415-013-7216-4 10.1371/journal.pone.0153852 10.1002/mds.23315 10.1002/mds.28492 10.1186/s12883-020-01684-6 10.1002/mds.25981 10.1016/j.ejmg.2020.104123 10.1002/mds.25475 10.1002/mds.28517 10.1002/mdc3.13140 10.1002/mdc3.12929 10.1002/mds.27812 10.3233/JAD-180123 10.1016/j.ajhg.2017.07.002 |
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| References | Hardies, Cai, Jardel (bb0225) 2016; 139 Trinh, Zeldenrust, Huang (bb0555) 2018; 33 Paisán-Ruiz, Guevara, Federoff (bb0435) 2010; 25 Kasten, Hartmann, Hampf (bb0465) 2018; 33 Rubio-Agustí, Dalmau, Sevilla, Burgal, Beltrán, Bataller (bb0095) 2011; 26 Wittke, Petkovic, Dobricic (bb0200) 2021; 36 Elia, Del Sorbo, Romito, Barzaghi, Garavaglia, Albanese (bb0470) 2014; 85 Keogh, Daud, Pyle (bb0405) 2015; 16 Lesage, Lunati, Houot (bb0475) 2020; 88 Li, Wan, Chen, Guo, Wang (bb0505) 2020; 78 Togashi, Fujita, Shibuya (bb0410) 2020; 42 Dale, Merheb, Pillai (bb0075) 2012; 135 Lesage, Mangone, Tesson (bb0235) 2021 Ha, Jankovic (bb0030) 2011; 26 Gasca-Salas, Masellis, Khoo (bb0560) 2016; 11 Haussermann, Wilhelm, Keinath, Stölzle, Conrad, Ceballos-Baumann (bb0640) 2001; 16 Burke, Frucht, Thompson (bb0290) 2018; 93 Martikainen, Ng, Gorman (bb0610) 2016; 73 Menozzi, Mulroy, Akbarian-Tefaghi, Bhatia, Balint (bb0080) 2021; 88 Mallaret, Lagha-Boukbiza, Biskup (bb0375) 2014; 261 Garcia-Berlanga, Moscovich, Palacios, Banegas-Lagos, Rojas-Martinez, Martinez-Ramirez (bb0605) 2019; 2019 Chu, Lin, Chen, Lin (bb0450) 2020; 20 Tuschl, Meyer, Valdivia (bb0150) 2016; 7 Avelino, Fusão, Pedroso (bb0165) 2014; 341 Ragona, Canafoglia, Castellotti (bb0415) 2020; 22 Kuo, Lin, Lin (bb0670) 2019; 62 Kannan, Jain, Sharma, Gulati (bb0045) 2015; 63 Sina, Shojaee, Elahi, Paisán-Ruiz (bb0440) 2009; 16 Traschütz, Schirinzi, Laugwitz (bb0365) 2020; 88 Edvardson, Nicolae, Agrawal (bb0350) 2017; 101 Fasano, Borlot, Lang, Andrade (bb0395) 2014; 82 Baiardi, Capellari, Bartoletti Stella, Parchi (bb0580) 2018; 64 Haq, Snively, Sweadner (bb0175) 2019; 34 Zúñiga-Ramírez, Kramis-Hollands, Mercado-Pimentel (bb0180) 2019 Respondek, Stamelou, Kurz (bb0550) 2014; 29 Karkheiran, Shahidi, Walker, Paisán-Ruiz (bb0445) 2015; 5 Carecchio, Invernizzi, Gonzàlez-Latapi (bb0665) 2019; 34 Lai, Jung, Grattan-Smith (bb0220) 2010; 25 Kuipers, Carr, Bardien (bb0310) 2018; 33 De Michele, Lieto, Galatolo (bb0535) 2019; 65 Carecchio, Picillo, Valletta (bb0590) 2017; 18 Yapici, Tuschl, Eraksoy (bb0155) 2020; 7 Di Fonzo, Dekker, Montagna (bb0205) 2009; 72 Joutsa, Horn, Hsu, Fox (bb0620) 2018; 141 Shetty, Bhatia, Lang (bb0010) 2019; 132 Corp, Joutsa, Darby (bb0615) 2019; 142 de Pablo-Fernández, González-Herrero, Cerdán Santacruz (bb0565) 2021; 36 Morales-Briceno, Ha, London, Farlow, Chang, Fung (bb0380) 2019; 64 Chelban, Wiethoff, Fabian-Jessing (bb0530) 2018; 33 Mohammad, Angiti, Biggin (bb0160) 2020 Fasano, Laganiere, Lam, Fox (bb0650) 2017; 81 Alonso-Canovas, Katschnig, Tucci (bb0520) 2010; 25 Krebs, Karkheiran, Powell (bb0230) 2013; 34 Ng, Cortès-Saladelafont, Abela (bb0210) 2020; 35 Bologna, Paparella, Fasano, Hallett, Berardelli (bb0645) 2020; 143 Ikeda, Kawarai, Setoyama, Orlacchio, Imamura (bb0360) 2021; 42 Reuter, Krumbiegel, Schlüter, Ekici, Reis, Zweier (bb0325) 2017; 173 Nomura, Kashiwagi, Tanabe (bb0185) 2021; 43 Straube, Sigel (bb0635) 1988; 51 Quadri, Federico, Zhao (bb0145) 2012; 90 Harting, Al-Saady, Krägeloh-Mann (bb0285) 2020; 21 Darling, Aguilera-Albesa, Tello (bb0195) 2019; 61 Chelban, Carecchio, Rea (bb0500) 2020; 6 Ma, Wang, Yang, Mao, Wan (bb0275) 2018; 39 Serrano, Rebollo, Depienne (bb0280) 2012; 27 Morales-Briceño, Mohammad, Post (bb0120) 2020; 143 Banuelos, Ramsey, Belnap (bb0400) 2017; 6 Dirkx, Zach, van Nuland, Bloem, Toni, Helmich (bb0655) 2019; 142 Katchen, Duvoisin (bb0675) 1986; 1 Di Giacopo, Cianetti, Caputo (bb0425) 2015; 356 Anderson, Walker, Connor, Carr, Margolis, Krause (bb0490) 2017; 6 Greene, Bressman, Ford, Hyland (bb0115) 2000; 15 Gupta, Vengoechea, Sahaya, Virmani (bb0315) 2015; 21 Varley, Webb, Balint (bb0085) 2019; 90 Bonvegna, Straccia, Golfrè Andreasi (bb0540) 2020; 35 Bras, Guerreiro, Teo (bb0480) 2014; 1 Humphreys, Barrowman (bb0295) 2016; 43 Wijemanne, Shulman, Jimenez-Shahed, Curry, Jankovic (bb0370) 2015; 2 Marsili, Bologna, Kojovic, Berardelli, Espay, Colosimo (bb0545) 2019; 66 Park, Kim, Jeon (bb0525) 2015; 2015 Ebrahimi-Fakhari, Hildebrandt, Davis, Rodan, Anselm, Bodamer (bb0420) 2018; 5 Camargos, Scholz, Simón-Sánchez (bb0245) 2008; 7 Estevez-Fraga, Magrinelli, Hensman Moss (bb0575) 2021; 7 Feuerstein, Taylor, Kwak, Berman (bb0660) 2021; 8 Wijemanne, Jankovic (bb0110) 2009; 24 Bastos, Quinodoz, Addor (bb0355) 2020; 20 De la Casa-Fages, Fernández-Eulate, Gamez (bb0595) 2019; 34 Limphaibool, Iwanowski, Holstad, Kobylarek, Kozubski (bb0040) 2019; 10 Ng, Papandreou, Heales, Kurian (bb0125) 2015; 11 Scannapieco, Picillo, Del Gaudio, Barone, Erro (bb0510) 2020; 7 Silveira-Moriyama, Moriyama, Gabbi, Ranvaud, Barbosa (bb0385) 2004; 19 Di Lazzaro, Graziola, Sancesario (bb0270) 2020; 79 Lange, Junker, Loens (bb0260) 2021; 36 Stelten, van de Warrenburg, Wevers, Verrips (bb0515) 2019; 58 Pauly, Ruiz López, Westenberger (bb0455) 2020; 35 Mao, Reuter, Ruzhnikov (bb0430) 2020; 106 Scott, Jankovic (bb0105) 1996; 46 Dhakar, Watson, Rajamani (bb0625) 2015; 24 Kim, Wirth, Hubsch (bb0345) 2020; 88 Umeh, Kalakoti, Greenberg (bb0585) 2016; 3 van Gassen, van der Heijden, de Bot (bb0600) 2012; 135 Hayflick, Kurian, Hogarth (bb0135) 2018; 147 Rauschendorf, Jost, Stock (bb0240) 2017; 32 Tadic, Westenberger, Domingo, Alvarez-Fischer, Klein, Kasten (bb0495) 2015; 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| References_xml | – start-page: 9 year: 2019 ident: bb0180 article-title: Generalized Dystonia and paroxysmal dystonic attacks due to a novel ATP1A3 variant publication-title: Tremor. Other Hyperkinet. Mov. (N Y) – volume: 20 start-page: 17 year: 2020 ident: bb0355 article-title: Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature publication-title: BMC Neurol. – volume: 427 start-page: 117477 year: 2021 ident: bb0680 article-title: Development of parkinsonism after long-standing cervical dystonia - a cohort publication-title: J. Neurol. Sci. – volume: 78 start-page: 184 year: 2020 end-page: 185 ident: bb0505 article-title: A compound heterozygous ALPL variant in a patient with dystonia-parkinsonism and hypointensity in basal ganglia: a case report publication-title: Parkinsonism Relat. Disord. – volume: 64 start-page: 1051 year: 2018 end-page: 1065 ident: bb0580 article-title: Unusual clinical presentations challenging the early clinical diagnosis of Creutzfeldt-Jakob disease publication-title: J. Alzheimers Dis. – volume: 6 year: 2020 ident: bb0500 article-title: MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism publication-title: Neurol. Genet. – volume: 39 start-page: 967 year: 2018 end-page: 969 ident: bb0275 article-title: Novel SERAC1 mutations in a Chinese patient presenting with parkinsonism and dystonia publication-title: Neurol. Sci. – volume: 5 start-page: 149 year: 2018 end-page: 155 ident: bb0420 article-title: The Spectrum of movement disorders in childhood-onset Lysosomal storage diseases publication-title: Mov. Disord. Clin. Pract. – volume: 36 start-page: 1038 year: 2021 end-page: 1040 ident: bb0265 article-title: PRKRA-related disorders: bilateral striatal degeneration in addition to DYT16 Spectrum publication-title: Mov. Disord. – volume: 11 start-page: 567 year: 2015 end-page: 584 ident: bb0125 article-title: Monoamine neurotransmitter disorders--clinical advances and future perspectives publication-title: Nat. Rev. Neurol. – volume: 82 start-page: 2250 year: 2014 end-page: 2251 ident: bb0395 article-title: Antecollis and levodopa-responsive parkinsonism are late features of Dravet syndrome publication-title: Neurology – volume: 379 start-page: 296 year: 2017 end-page: 297 ident: bb0130 article-title: Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease publication-title: J. Neurol. Sci. – volume: 7 start-page: 11601 year: 2016 ident: bb0150 article-title: Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia publication-title: Nat. Commun. – volume: 16 start-page: 65 year: 2015 end-page: 67 ident: bb0405 article-title: A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism publication-title: Neurogenetics – volume: 16 start-page: 101 year: 2009 end-page: 104 ident: bb0440 article-title: R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family publication-title: Eur. J. Neurol. – volume: 7 start-page: 448 year: 2020 end-page: 452 ident: bb0460 article-title: Phasic knee bending dystonic and Parkinsonian gait: a characteristic finding in X-linked Dystonia parkinsonism publication-title: Move. Disord. Clin. Pract. – volume: 31 start-page: 765 year: 2016 end-page: 767 ident: bb0250 article-title: PRKRA mutation causing early-onset generalized Dystonia-parkinsonism (DYT16) in an Italian family publication-title: Mov. Disord. – volume: 27 start-page: 160 year: 2012 end-page: 161 ident: bb0305 article-title: Generalized dystonia, athetosis, and parkinsonism associated with FOXG1 mutation publication-title: Mov. Disord. – volume: 261 start-page: 435 year: 2014 end-page: 437 ident: bb0375 article-title: SPG15: a cause of juvenile atypical levodopa responsive parkinsonism publication-title: J. Neurol. – volume: 36 start-page: 1086 year: 2021 end-page: 1103 ident: bb0260 article-title: Genotype–phenotype relations for isolated dystonia genes: MDSGene systematic review publication-title: Mov. Disord. – volume: 88 start-page: 251 year: 2020 end-page: 263 ident: bb0365 article-title: Clinico-genetic, imaging and molecular delineation of COQ8A-Ataxia: a multicenter study of 59 patients publication-title: Ann. Neurol. – volume: 43 start-page: 566 year: 2021 end-page: 570 ident: bb0185 article-title: Rapid-onset dystonia-parkinsonism with ATP1A3 mutation and left lower limb paroxysmal dystonia publication-title: Brain and Development – volume: 63 start-page: 109 year: 2015 end-page: 110 ident: bb0045 article-title: Subacute sclerosing panencephalitis masquerading as rapid-onset dystonia-parkinsonism in a child publication-title: Neurol. India – volume: 142 start-page: 1660 year: 2019 end-page: 1674 ident: bb0615 article-title: Network localization of cervical dystonia based on causal brain lesions publication-title: Brain – volume: 21 start-page: 1473 year: 2015 end-page: 1475 ident: bb0315 article-title: A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism publication-title: Parkinsonism Relat. Disord. – volume: 2019 start-page: 7615605 year: 2019 ident: bb0605 article-title: CAPN1 variants as cause of hereditary spastic paraplegia type 76 publication-title: Case Rep. Neurol. Med. – volume: 6 start-page: 37 year: 2017 end-page: 46 ident: bb0490 article-title: A systematic review of the Huntington disease-like 2 phenotype publication-title: J. Huntingtons Dis. – volume: 73 start-page: 668 year: 2016 end-page: 674 ident: bb0610 article-title: Clinical, genetic, and radiological features of extrapyramidal movement disorders in mitochondrial disease publication-title: JAMA Neurol. – volume: 28 start-page: 863 year: 2013 end-page: 873 ident: bb0015 article-title: Phenomenology and classification of dystonia: a consensus update publication-title: Mov. Disord. – volume: 11 year: 2016 ident: bb0560 article-title: Characterization of movement disorder phenomenology in genetically proven, familial Frontotemporal lobar degeneration: a systematic review and meta-analysis publication-title: PLoS One – volume: 33 start-page: 1857 year: 2018 end-page: 1870 ident: bb0555 article-title: Genotype-phenotype relations for the Parkinson’s disease genes SNCA, LRRK2, VPS35: MDSGene systematic review publication-title: Mov. Disord. – volume: 62 start-page: 236 year: 2019 end-page: 238 ident: bb0670 article-title: Craniocervical dystonia with levodopa-responsive parkinsonism co-segregating with a pathogenic ANO3 mutation in a Taiwanese family publication-title: Parkinsonism Relat. Disord. – volume: 72 start-page: 240 year: 2009 end-page: 245 ident: bb0205 article-title: FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome publication-title: Neurology – volume: 90 start-page: 467 year: 2012 end-page: 477 ident: bb0145 article-title: Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease publication-title: Am. J. Hum. Genet. – volume: 135 start-page: 3453 year: 2012 end-page: 3468 ident: bb0075 article-title: Antibodies to surface dopamine-2 receptor in autoimmune movement and psychiatric disorders publication-title: Brain – volume: 35 start-page: 880 year: 2020 end-page: 885 ident: bb0330 article-title: Loss-of-function mutations in NR4A2 cause Dopa-responsive Dystonia parkinsonism publication-title: Mov. Disord. – volume: 29 start-page: 1504 year: 2014 end-page: 1510 ident: bb0255 article-title: DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family publication-title: Mov. Disord. – volume: 35 start-page: 1933 year: 2020 end-page: 1938 ident: bb0455 article-title: Expanding data collection for the MDSGene database: X-linked Dystonia-parkinsonism as use case example publication-title: Mov. Disord. – volume: 34 start-page: 1516 year: 2019 end-page: 1527 ident: bb0665 article-title: Frequency and phenotypic spectrum of KMT2B dystonia in childhood: a single-center cohort study publication-title: Mov. Disord. – volume: 5 start-page: 317 year: 2015 ident: bb0445 article-title: PLA2G6-associated Dystonia-Parkinsonism: case report and literature review publication-title: Tremor. Other Hyperkinet. Mov. (N Y) – volume: 261 start-page: 2225 year: 2014 end-page: 2227 ident: bb0390 article-title: X-linked agammaglobulinemia with hearing impairment, dystonia-parkinsonism, and progressive neurodegeneration publication-title: J. Neurol. – volume: 18 start-page: 175 year: 2017 end-page: 178 ident: bb0590 article-title: Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation publication-title: Neurogenetics – volume: 46 start-page: 68 year: 1996 end-page: 74 ident: bb0105 article-title: Delayed-onset progressive movement disorders after static brain lesions publication-title: Neurology – volume: 16 start-page: 962 year: 2001 end-page: 965 ident: bb0640 article-title: Primary central nervous system lymphoma in the SMA presenting as rapidly progressive parkinsonism publication-title: Mov. Disord. – volume: 2015 start-page: 125273 year: 2015 ident: bb0525 article-title: Parkinsonism in spinocerebellar ataxia publication-title: Biomed. Res. Int. – volume: 130 start-page: 828 year: 2007 end-page: 835 ident: bb0170 article-title: The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene publication-title: Brain – volume: 7 year: 2021 ident: bb0335 article-title: NR4A2 mutations can cause intellectual disability and language impairment with persistent Dystonia-parkinsonism publication-title: Neurol. Genet. – volume: 87 start-page: 793 year: 2016 end-page: 795 ident: bb0570 article-title: Left hand dystonia as a recurring feature of a family carrying C9ORF72 mutation publication-title: J. Neurol. Neurosurg. Psychiatry – volume: 42 start-page: 696 year: 2020 end-page: 699 ident: bb0410 article-title: Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy publication-title: Brain and Development – volume: 25 start-page: 1791 year: 2010 end-page: 1800 ident: bb0435 article-title: Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations publication-title: Move. Disord.: Off. J. Move. Disord. Soc. – volume: 24 start-page: 2880 year: 2015 end-page: 2882 ident: bb0625 article-title: Acute onset Dystonia after infarction of premotor and supplementary motor cortex publication-title: J. Stroke Cerebrovasc. Dis. – volume: 4 start-page: 25 year: 2018 ident: bb0005 article-title: Dystonia publication-title: Nat. Rev. Dis. Prim. – volume: 72 start-page: 460 year: 2015 end-page: 467 ident: bb0495 article-title: Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization publication-title: JAMA Neurol. – volume: 15 start-page: 537 year: 2000 end-page: 541 ident: bb0115 article-title: Parkinsonism, dystonia, and hemiatrophy publication-title: Mov. Disord. – volume: 51 start-page: 730 year: 1988 end-page: 731 ident: bb0635 article-title: Parkinsonian syndrome caused by a tumour of the left supplementary motor area publication-title: J. Neurol. Neurosurg. Psychiatry – volume: 35 start-page: 2360 year: 2020 end-page: 2362 ident: bb0540 article-title: Parkinsonism and Nigrostriatal damage secondary to CSF1R-related primary Microgliopathy publication-title: Mov. Disord. – volume: 58 start-page: 12 year: 2019 end-page: 16 ident: bb0515 article-title: Movement disorders in cerebrotendinous xanthomatosis publication-title: Parkinsonism Relat. Disord. – volume: 132 start-page: 104462 year: 2019 ident: bb0010 article-title: Dystonia and Parkinson’s disease: what is the relationship? publication-title: Neurobiol. Dis. – volume: 22 start-page: 233 year: 2020 end-page: 236 ident: bb0415 article-title: Early parkinsonism in a Senegalese girl with Lafora disease publication-title: Epileptic Disord. – volume: 1 start-page: 45 year: 2014 end-page: 49 ident: bb0480 article-title: Atypical parkinsonism-Dystonia syndrome caused by a novel DJ1 mutation publication-title: Move. Disord. Clin. Pract. – volume: 29 start-page: 1758 year: 2014 end-page: 1766 ident: bb0550 article-title: The phenotypic spectrum of progressive supranuclear palsy: a retrospective multicenter study of 100 definite cases publication-title: Mov. Disord. – volume: 341 start-page: 150 year: 2014 end-page: 152 ident: bb0165 article-title: Inherited manganism: the “cock-walk” gait and typical neuroimaging features publication-title: J. Neurol. Sci. – volume: 36 start-page: 1499 year: 2021 end-page: 1510 ident: bb0200 article-title: Genotype–phenotype relations for the atypical parkinsonism genes: MDSGene systematic review publication-title: Mov. Disord. – volume: 3 start-page: 355 year: 2016 end-page: 358 ident: bb0585 article-title: Clinicopathological correlates in a PRNP P102L mutation carrier with rapidly progressing parkinsonism-dystonia publication-title: Mov. Disord. Clin. Pract. – volume: 88 start-page: 843 year: 2020 end-page: 850 ident: bb0475 article-title: Characterization of recessive Parkinson disease in a large multicenter study publication-title: Ann. Neurol. – volume: 65 start-page: 91 year: 2019 end-page: 96 ident: bb0535 article-title: Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: a report of two Italian families publication-title: Parkinsonism Relat. Disord. – volume: 64 start-page: 319 year: 2019 end-page: 323 ident: bb0380 article-title: Parkinsonism in PGK1 deficiency implicates the glycolytic pathway in nigrostriatal dysfunction publication-title: Parkinsonism Relat. Disord. – volume: 25 start-page: 1506 year: 2010 end-page: 1509 ident: bb0520 article-title: Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: case report and literature review publication-title: Mov. Disord. – volume: 135 start-page: 2994 year: 2012 end-page: 3004 ident: bb0600 article-title: Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort publication-title: Brain – volume: 24 start-page: 583 year: 2009 end-page: 589 ident: bb0110 article-title: Hemidystonia-hemiatrophy syndrome publication-title: Mov. Disord. – volume: 141 start-page: 2445 year: 2018 end-page: 2456 ident: bb0620 article-title: Localizing parkinsonism based on focal brain lesions publication-title: Brain – volume: 10 start-page: 652 year: 2019 ident: bb0040 article-title: Infectious etiologies of parkinsonism: Pathomechanisms and clinical implications publication-title: Front. Neurol. – volume: 26 start-page: 351 year: 2011 end-page: 352 ident: bb0095 article-title: Isolated hemidystonia associated with NMDA receptor antibodies publication-title: Mov. Disord. – volume: 8 start-page: 279 year: 2021 end-page: 281 ident: bb0660 article-title: Parkinsonism and positive dopamine transporter imaging in a patient with a novel KMT2B variant publication-title: Mov. Disord. Clin. Pract. – volume: 7 start-page: 118 year: 2020 end-page: 119 ident: bb0300 article-title: Parkinsonism, intellectual disability, and catatonia in a young male with MECP2 variant publication-title: Mov. Disord. Clin. Pract. – volume: 33 start-page: 730 year: 2018 end-page: 741 ident: bb0465 article-title: Genotype-phenotype relations for the Parkinson’s disease genes Parkin, PINK1, DJ1: MDSGene systematic review publication-title: Mov. Disord. – volume: 81 start-page: 129 year: 2017 end-page: 141 ident: bb0650 article-title: Lesions causing freezing of gait localize to a cerebellar functional network publication-title: Ann. Neurol. – volume: 26 start-page: 1556 year: 2011 end-page: 1558 ident: bb0030 article-title: Parkinsonism and dystonia associated with adalimumab publication-title: Mov. Disord. – volume: 147 start-page: 293 year: 2018 end-page: 305 ident: bb0135 article-title: Neurodegeneration with brain iron accumulation publication-title: Handb. Clin. Neurol. – volume: 28 start-page: 889 year: 2013 end-page: 898 ident: bb0025 article-title: Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes publication-title: Mov. Disord. – volume: 139 start-page: 2420 year: 2016 end-page: 2430 ident: bb0225 article-title: Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline publication-title: Brain – volume: 6 start-page: 553 year: 2017 ident: bb0400 article-title: Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability publication-title: F1000Res – volume: 30 start-page: 1591 year: 2015 end-page: 1601 ident: bb0020 article-title: MDS clinical diagnostic criteria for Parkinson’s disease publication-title: Mov. Disord. – volume: 33 start-page: 1119 year: 2018 end-page: 1129 ident: bb0530 article-title: Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14 publication-title: Mov. Disord. – volume: 143 start-page: 727 year: 2020 end-page: 750 ident: bb0645 article-title: Evolving concepts on bradykinesia publication-title: Brain – volume: 19 start-page: 472 year: 2004 end-page: 475 ident: bb0385 article-title: Chediak-Higashi syndrome with parkinsonism publication-title: Mov. Disord. – volume: 85 start-page: 827 year: 2014 end-page: 828 ident: bb0470 article-title: Isolated limb dystonia as presenting feature of Parkin disease publication-title: J. Neurol. Neurosurg. Psychiatry – volume: 7 start-page: 207 year: 2008 end-page: 215 ident: bb0245 article-title: DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA publication-title: Lancet Neurol. – volume: 42 start-page: 1217 year: 2021 end-page: 1219 ident: bb0360 article-title: Recurrent de novo missense variant E210K in UBTF causes juvenile dystonia-parkinsonism publication-title: Neurol. Sci. – volume: 31 start-page: 1905 year: 2016 end-page: 1909 ident: bb0320 article-title: A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification publication-title: Mov. Disord. – volume: 23 start-page: 1267 year: 2014 end-page: 1268 ident: bb0630 article-title: Early-onset dystonia after supplementary motor area infarction publication-title: J. Stroke Cerebrovasc. Dis. – volume: 54 start-page: 1927 year: 2015 end-page: 1932 ident: bb0090 article-title: An atypical case of anti-NMDA receptor encephalitis: predominant parkinsonism and persisting Micrographia without Oro-facial dyskinesia publication-title: Intern. Med. – volume: 28 start-page: 2035 year: 2013 end-page: 2036 ident: bb0140 article-title: Early onset dystonia and parkinsonism with abnormal globus pallidal signal in MRI: a diagnostic challenge publication-title: Mov. Disord. – volume: 375 start-page: 68 year: 2017 end-page: 70 ident: bb0035 article-title: Cyclosporine a induced dystonia-parkinsonism publication-title: J. Neurol. Sci. – volume: 25 start-page: 1274 year: 2010 end-page: 1279 ident: bb0220 article-title: Neuronal intranuclear inclusion disease: two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia publication-title: Mov. Disord. – volume: 141 start-page: 13 year: 2017 end-page: 36 ident: bb0100 article-title: Movement disorders with neuronal antibodies: syndromic approach, genetic parallels and pathophysiology publication-title: Brain – start-page: 2(2) year: 2020 ident: bb0160 article-title: Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders publication-title: Brain Commun. – volume: 32 start-page: 478 year: 2017 end-page: 480 ident: bb0240 article-title: Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome publication-title: Mov. Disord. – volume: 101 start-page: 267 year: 2017 end-page: 273 ident: bb0350 article-title: Heterozygous De novo UBTF gain-of-function variant is associated with Neurodegeneration in childhood publication-title: Am. J. Hum. Genet. – start-page: 12(366) year: 2021 ident: bb0235 article-title: Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism publication-title: Front. Neurol. – volume: 356 start-page: 65 year: 2015 end-page: 71 ident: bb0425 article-title: Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: clinical, molecular and biochemical characterization in three sibs publication-title: J. Neurol. Sci. – volume: 66 start-page: 25 year: 2019 end-page: 33 ident: bb0545 article-title: Dystonia in atypical parkinsonian disorders publication-title: Parkinsonism Relat. Disord. – volume: 33 start-page: 1814 year: 2018 end-page: 1819 ident: bb0310 article-title: PTRHD1 loss-of-function mutation in an african family with juvenile-onset parkinsonism and intellectual disability publication-title: Mov. Disord. – volume: 7 year: 2021 ident: bb0575 article-title: Expanding the spectrum of movement disorders associated with <em>C9orf72</em> hexanucleotide expansions publication-title: Neurol. Genet. – volume: 34 start-page: 1200 year: 2013 end-page: 1207 ident: bb0230 article-title: The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive parkinsonism with generalized seizures publication-title: Hum. Mutat. – volume: 20 start-page: 101 year: 2020 ident: bb0450 article-title: Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review publication-title: BMC Neurol. – volume: 6 start-page: 312 year: 2019 end-page: 315 ident: bb0190 article-title: Paroxysmal asymmetric dystonic arm posturing—a less recognized but characteristic manifestation of ATP1A3-related disease publication-title: Move. Disord. Clin. Pract. – volume: 35 start-page: 1357 year: 2020 end-page: 1368 ident: bb0210 article-title: DNAJC6 mutations disrupt dopamine homeostasis in juvenile parkinsonism-Dystonia publication-title: Mov. Disord. – volume: 79 start-page: 100 year: 2020 end-page: 104 ident: bb0270 article-title: Movement disorders in ADAR1 disease: insights from a comprehensive cohort publication-title: Parkinsonism Relat. Disord. – volume: 36 start-page: 632 year: 2021 end-page: 641 ident: bb0565 article-title: A clinicopathologic study of movement disorders in Frontotemporal lobar degeneration publication-title: Mov. Disord. – volume: 19 start-page: 320 year: 2013 end-page: 324 ident: bb0215 article-title: DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability publication-title: Parkinsonism Relat. Disord. – volume: 143 start-page: 751 year: 2020 end-page: 770 ident: bb0120 article-title: Clinical and neuroimaging phenotypes of genetic parkinsonism from infancy to adolescence publication-title: Brain – volume: 7 start-page: 701 year: 2020 end-page: 703 ident: bb0510 article-title: A novel phenotype associated with CaSR-related familial brain calcifications publication-title: Move. Disord. Clin. Pract. – volume: 43 start-page: 567 year: 2016 end-page: 573 ident: bb0295 article-title: The incidence and evolution of Parkinsonian rigidity in Rett syndrome: a pilot study publication-title: Can. J. Neurol. Sci. – volume: 93 start-page: 712 year: 2018 end-page: 718 ident: bb0290 article-title: Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause levodopa-responsive infantile-onset parkinsonism publication-title: Clin. Genet. – volume: 88 start-page: 1028 year: 2020 end-page: 1033 ident: bb0345 article-title: Early-onset parkinsonism is a manifestation of the PPP2R5D p.E200K mutation publication-title: Ann. Neurol. – volume: 61 start-page: 179 year: 2019 end-page: 186 ident: bb0195 article-title: PLA2G6-associated neurodegeneration: new insights into brain abnormalities and disease progression publication-title: Parkinsonism Relat. Disord. – volume: 106 start-page: 570 year: 2020 end-page: 583 ident: bb0430 article-title: De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, Leukoencephalopathy, and neurologic Decompensation publication-title: Am. J. Hum. Genet. – volume: 5 start-page: 223 year: 2018 end-page: 224 ident: bb0485 article-title: The “stutter-step”: a peculiar gait feature in advanced Huntington’s disease and chorea-Acanthocytosis publication-title: Move. Disord. Clin. Pract. – volume: 27 start-page: 1295 year: 2012 end-page: 1298 ident: bb0280 article-title: Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency publication-title: Mov. Disord. – volume: 173 start-page: 2231 year: 2017 end-page: 2234 ident: bb0325 article-title: Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment publication-title: Am. J. Med. Genet. A – volume: 88 start-page: 116 year: 2021 end-page: 128 ident: bb0080 article-title: Movement disorders in systemic autoimmune diseases: clinical spectrum, ancillary investigations, pathophysiological considerations publication-title: Parkinsonism Relat. Disord. – volume: 1 start-page: 151 year: 1986 end-page: 157 ident: bb0675 article-title: Parkinsonism following dystonia in three patients publication-title: Mov. Disord. – volume: 64 start-page: 104123 year: 2021 ident: bb0340 article-title: Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder publication-title: Eur. J. Med. Genet. – volume: 2 start-page: 149 year: 2015 end-page: 154 ident: bb0370 article-title: SPG11 mutations associated with a complex phenotype resembling Dopa-responsive Dystonia publication-title: Mov. Disord. Clin. Pract. – volume: 34 start-page: 1547 year: 2019 end-page: 1561 ident: bb0595 article-title: Parkinsonism and spastic paraplegia type 7: expanding the spectrum of mitochondrial parkinsonism publication-title: Mov. Disord. – volume: 34 start-page: 1528 year: 2019 end-page: 1536 ident: bb0175 article-title: Revising rapid-onset dystonia-parkinsonism: broadening indications for ATP1A3 testing publication-title: Mov. Disord. – volume: 142 start-page: 3144 year: 2019 end-page: 3157 ident: bb0655 article-title: Cerebral differences between dopamine-resistant and dopamine-responsive Parkinson’s tremor publication-title: Brain – volume: 21 start-page: 121 year: 2020 end-page: 133 ident: bb0285 article-title: POLR3A variants with striatal involvement and extrapyramidal movement disorder publication-title: Neurogenetics – volume: 7 start-page: 94 year: 2020 end-page: 96 ident: bb0155 article-title: Hypermanganesemia with Dystonia 1: a novel mutation and response to Iron supplementation publication-title: Mov. Disord. Clin. Pract. – volume: 90 start-page: 724 year: 2019 end-page: 726 ident: bb0085 article-title: The movement disorder associated with NMDAR antibody-encephalitis is complex and characteristic: an expert video-rating study publication-title: J. Neurol. Neurosurg. Psychiatry – volume: 6 issue: 2 year: 2020 ident: 10.1016/j.jns.2021.120016_bb0500 article-title: MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism publication-title: Neurol. Genet. doi: 10.1212/NXG.0000000000000399 – volume: 35 start-page: 1357 issue: 8 year: 2020 ident: 10.1016/j.jns.2021.120016_bb0210 article-title: DNAJC6 mutations disrupt dopamine homeostasis in juvenile parkinsonism-Dystonia publication-title: Mov. Disord. doi: 10.1002/mds.28063 – volume: 16 start-page: 65 issue: 1 year: 2015 ident: 10.1016/j.jns.2021.120016_bb0405 article-title: A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism publication-title: Neurogenetics doi: 10.1007/s10048-014-0431-z – volume: 28 start-page: 889 issue: 7 year: 2013 ident: 10.1016/j.jns.2021.120016_bb0025 article-title: Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes publication-title: Mov. Disord. doi: 10.1002/mds.25549 – volume: 261 start-page: 2225 issue: 11 year: 2014 ident: 10.1016/j.jns.2021.120016_bb0390 article-title: X-linked agammaglobulinemia with hearing impairment, dystonia-parkinsonism, and progressive neurodegeneration publication-title: J. Neurol. doi: 10.1007/s00415-014-7483-8 – volume: 25 start-page: 1274 issue: 9 year: 2010 ident: 10.1016/j.jns.2021.120016_bb0220 article-title: Neuronal intranuclear inclusion disease: two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia publication-title: Mov. Disord. doi: 10.1002/mds.22876 – volume: 87 start-page: 793 issue: 7 year: 2016 ident: 10.1016/j.jns.2021.120016_bb0570 article-title: Left hand dystonia as a recurring feature of a family carrying C9ORF72 mutation publication-title: J. Neurol. Neurosurg. Psychiatry doi: 10.1136/jnnp-2015-311311 – volume: 79 start-page: 100 year: 2020 ident: 10.1016/j.jns.2021.120016_bb0270 article-title: Movement disorders in ADAR1 disease: insights from a comprehensive cohort publication-title: Parkinsonism Relat. Disord. doi: 10.1016/j.parkreldis.2020.08.039 – volume: 33 start-page: 730 issue: 5 year: 2018 ident: 10.1016/j.jns.2021.120016_bb0465 article-title: Genotype-phenotype relations for the Parkinson’s disease genes Parkin, PINK1, DJ1: MDSGene systematic review publication-title: Mov. Disord. doi: 10.1002/mds.27352 – volume: 36 start-page: 632 issue: 3 year: 2021 ident: 10.1016/j.jns.2021.120016_bb0565 article-title: A clinicopathologic study of movement disorders in Frontotemporal lobar degeneration publication-title: Mov. Disord. doi: 10.1002/mds.28356 – volume: 142 start-page: 3144 issue: 10 year: 2019 ident: 10.1016/j.jns.2021.120016_bb0655 article-title: Cerebral differences between dopamine-resistant and dopamine-responsive Parkinson’s tremor publication-title: Brain doi: 10.1093/brain/awz261 – volume: 42 start-page: 1217 issue: 3 year: 2021 ident: 10.1016/j.jns.2021.120016_bb0360 article-title: Recurrent de novo missense variant E210K in UBTF causes juvenile dystonia-parkinsonism publication-title: Neurol. Sci. doi: 10.1007/s10072-020-04758-y – volume: 2015 start-page: 125273 year: 2015 ident: 10.1016/j.jns.2021.120016_bb0525 article-title: Parkinsonism in spinocerebellar ataxia publication-title: Biomed. Res. Int. doi: 10.1155/2015/125273 – volume: 6 start-page: 312 issue: 4 year: 2019 ident: 10.1016/j.jns.2021.120016_bb0190 article-title: Paroxysmal asymmetric dystonic arm posturing—a less recognized but characteristic manifestation of ATP1A3-related disease publication-title: Move. Disord. Clin. Pract. doi: 10.1002/mdc3.12747 – volume: 72 start-page: 240 issue: 3 year: 2009 ident: 10.1016/j.jns.2021.120016_bb0205 article-title: FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome publication-title: Neurology doi: 10.1212/01.wnl.0000338144.10967.2b – volume: 7 issue: 2 year: 2021 ident: 10.1016/j.jns.2021.120016_bb0575 article-title: Expanding the spectrum of movement disorders associated with C9orf72 hexanucleotide expansions publication-title: Neurol. Genet. doi: 10.1212/NXG.0000000000000575 – volume: 78 start-page: 184 year: 2020 ident: 10.1016/j.jns.2021.120016_bb0505 article-title: A compound heterozygous ALPL variant in a patient with dystonia-parkinsonism and hypointensity in basal ganglia: a case report publication-title: Parkinsonism Relat. Disord. doi: 10.1016/j.parkreldis.2020.07.027 – volume: 7 start-page: 701 issue: 6 year: 2020 ident: 10.1016/j.jns.2021.120016_bb0510 article-title: A novel phenotype associated with CaSR-related familial brain calcifications publication-title: Move. Disord. Clin. Pract. doi: 10.1002/mdc3.13009 – volume: 142 start-page: 1660 issue: 6 year: 2019 ident: 10.1016/j.jns.2021.120016_bb0615 article-title: Network localization of cervical dystonia based on causal brain lesions publication-title: Brain doi: 10.1093/brain/awz112 – volume: 46 start-page: 68 issue: 1 year: 1996 ident: 10.1016/j.jns.2021.120016_bb0105 article-title: Delayed-onset progressive movement disorders after static brain lesions publication-title: Neurology doi: 10.1212/WNL.46.1.68 – volume: 427 start-page: 117477 year: 2021 ident: 10.1016/j.jns.2021.120016_bb0680 article-title: Development of parkinsonism after long-standing cervical dystonia - a cohort publication-title: J. Neurol. Sci. doi: 10.1016/j.jns.2021.117477 – volume: 7 start-page: 11601 year: 2016 ident: 10.1016/j.jns.2021.120016_bb0150 article-title: Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia publication-title: Nat. Commun. doi: 10.1038/ncomms11601 – volume: 39 start-page: 967 issue: 5 year: 2018 ident: 10.1016/j.jns.2021.120016_bb0275 article-title: Novel SERAC1 mutations in a Chinese patient presenting with parkinsonism and dystonia publication-title: Neurol. Sci. doi: 10.1007/s10072-018-3247-z – volume: 19 start-page: 472 issue: 4 year: 2004 ident: 10.1016/j.jns.2021.120016_bb0385 article-title: Chediak-Higashi syndrome with parkinsonism publication-title: Mov. Disord. doi: 10.1002/mds.10677 – start-page: 2(2) year: 2020 ident: 10.1016/j.jns.2021.120016_bb0160 article-title: Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders publication-title: Brain Commun. – volume: 173 start-page: 2231 issue: 8 year: 2017 ident: 10.1016/j.jns.2021.120016_bb0325 article-title: Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment publication-title: Am. J. Med. Genet. A doi: 10.1002/ajmg.a.38288 – volume: 34 start-page: 1528 issue: 10 year: 2019 ident: 10.1016/j.jns.2021.120016_bb0175 article-title: Revising rapid-onset dystonia-parkinsonism: broadening indications for ATP1A3 testing publication-title: Mov. Disord. doi: 10.1002/mds.27801 – volume: 341 start-page: 150 issue: 1–2 year: 2014 ident: 10.1016/j.jns.2021.120016_bb0165 article-title: Inherited manganism: the “cock-walk” gait and typical neuroimaging features publication-title: J. Neurol. Sci. doi: 10.1016/j.jns.2014.03.057 – volume: 31 start-page: 765 issue: 5 year: 2016 ident: 10.1016/j.jns.2021.120016_bb0250 article-title: PRKRA mutation causing early-onset generalized Dystonia-parkinsonism (DYT16) in an Italian family publication-title: Mov. Disord. doi: 10.1002/mds.26583 – volume: 18 start-page: 175 issue: 3 year: 2017 ident: 10.1016/j.jns.2021.120016_bb0590 article-title: Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation publication-title: Neurogenetics doi: 10.1007/s10048-017-0518-4 – volume: 147 start-page: 293 year: 2018 ident: 10.1016/j.jns.2021.120016_bb0135 article-title: Neurodegeneration with brain iron accumulation publication-title: Handb. Clin. Neurol. doi: 10.1016/B978-0-444-63233-3.00019-1 – volume: 32 start-page: 478 issue: 3 year: 2017 ident: 10.1016/j.jns.2021.120016_bb0240 article-title: Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome publication-title: Mov. Disord. doi: 10.1002/mds.26876 – volume: 93 start-page: 712 issue: 3 year: 2018 ident: 10.1016/j.jns.2021.120016_bb0290 article-title: Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause levodopa-responsive infantile-onset parkinsonism publication-title: Clin. Genet. doi: 10.1111/cge.13172 – volume: 34 start-page: 1516 issue: 10 year: 2019 ident: 10.1016/j.jns.2021.120016_bb0665 article-title: Frequency and phenotypic spectrum of KMT2B dystonia in childhood: a single-center cohort study publication-title: Mov. Disord. doi: 10.1002/mds.27771 – volume: 141 start-page: 13 issue: 1 year: 2017 ident: 10.1016/j.jns.2021.120016_bb0100 article-title: Movement disorders with neuronal antibodies: syndromic approach, genetic parallels and pathophysiology publication-title: Brain doi: 10.1093/brain/awx189 – volume: 5 start-page: 149 issue: 2 year: 2018 ident: 10.1016/j.jns.2021.120016_bb0420 article-title: The Spectrum of movement disorders in childhood-onset Lysosomal storage diseases publication-title: Mov. Disord. Clin. Pract. doi: 10.1002/mdc3.12573 – volume: 141 start-page: 2445 issue: 8 year: 2018 ident: 10.1016/j.jns.2021.120016_bb0620 article-title: Localizing parkinsonism based on focal brain lesions publication-title: Brain doi: 10.1093/brain/awy161 – volume: 7 start-page: 94 issue: 1 year: 2020 ident: 10.1016/j.jns.2021.120016_bb0155 article-title: Hypermanganesemia with Dystonia 1: a novel mutation and response to Iron supplementation publication-title: Mov. Disord. Clin. Pract. doi: 10.1002/mdc3.12861 – volume: 81 start-page: 129 issue: 1 year: 2017 ident: 10.1016/j.jns.2021.120016_bb0650 article-title: Lesions causing freezing of gait localize to a cerebellar functional network publication-title: Ann. Neurol. doi: 10.1002/ana.24845 – volume: 375 start-page: 68 year: 2017 ident: 10.1016/j.jns.2021.120016_bb0035 article-title: Cyclosporine a induced dystonia-parkinsonism publication-title: J. Neurol. Sci. doi: 10.1016/j.jns.2017.01.043 – volume: 143 start-page: 727 issue: 3 year: 2020 ident: 10.1016/j.jns.2021.120016_bb0645 article-title: Evolving concepts on bradykinesia publication-title: Brain doi: 10.1093/brain/awz344 – volume: 61 start-page: 179 year: 2019 ident: 10.1016/j.jns.2021.120016_bb0195 article-title: PLA2G6-associated neurodegeneration: new insights into brain abnormalities and disease progression publication-title: Parkinsonism Relat. Disord. doi: 10.1016/j.parkreldis.2018.10.013 – volume: 58 start-page: 12 year: 2019 ident: 10.1016/j.jns.2021.120016_bb0515 article-title: Movement disorders in cerebrotendinous xanthomatosis publication-title: Parkinsonism Relat. Disord. doi: 10.1016/j.parkreldis.2018.07.006 – volume: 31 start-page: 1905 issue: 12 year: 2016 ident: 10.1016/j.jns.2021.120016_bb0320 article-title: A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification publication-title: Mov. Disord. doi: 10.1002/mds.26828 – volume: 25 start-page: 1791 issue: 12 year: 2010 ident: 10.1016/j.jns.2021.120016_bb0435 article-title: Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations publication-title: Move. Disord.: Off. J. Move. Disord. Soc. doi: 10.1002/mds.23221 – volume: 35 start-page: 880 issue: 5 year: 2020 ident: 10.1016/j.jns.2021.120016_bb0330 article-title: Loss-of-function mutations in NR4A2 cause Dopa-responsive Dystonia parkinsonism publication-title: Mov. Disord. doi: 10.1002/mds.27982 – volume: 132 start-page: 104462 year: 2019 ident: 10.1016/j.jns.2021.120016_bb0010 article-title: Dystonia and Parkinson’s disease: what is the relationship? publication-title: Neurobiol. Dis. doi: 10.1016/j.nbd.2019.05.001 – volume: 24 start-page: 583 issue: 4 year: 2009 ident: 10.1016/j.jns.2021.120016_bb0110 article-title: Hemidystonia-hemiatrophy syndrome publication-title: Mov. Disord. doi: 10.1002/mds.22415 – volume: 42 start-page: 696 issue: 9 year: 2020 ident: 10.1016/j.jns.2021.120016_bb0410 article-title: Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy publication-title: Brain and Development doi: 10.1016/j.braindev.2020.06.011 – volume: 24 start-page: 2880 issue: 12 year: 2015 ident: 10.1016/j.jns.2021.120016_bb0625 article-title: Acute onset Dystonia after infarction of premotor and supplementary motor cortex publication-title: J. Stroke Cerebrovasc. Dis. doi: 10.1016/j.jstrokecerebrovasdis.2015.09.016 – volume: 25 start-page: 1506 issue: 10 year: 2010 ident: 10.1016/j.jns.2021.120016_bb0520 article-title: Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: case report and literature review publication-title: Mov. Disord. doi: 10.1002/mds.23109 – volume: 130 start-page: 828 issue: Pt 3 year: 2007 ident: 10.1016/j.jns.2021.120016_bb0170 article-title: The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene publication-title: Brain doi: 10.1093/brain/awl340 – start-page: 12(366) year: 2021 ident: 10.1016/j.jns.2021.120016_bb0235 article-title: Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism publication-title: Front. Neurol. – volume: 54 start-page: 1927 issue: 15 year: 2015 ident: 10.1016/j.jns.2021.120016_bb0090 article-title: An atypical case of anti-NMDA receptor encephalitis: predominant parkinsonism and persisting Micrographia without Oro-facial dyskinesia publication-title: Intern. Med. doi: 10.2169/internalmedicine.54.3757 – volume: 379 start-page: 296 year: 2017 ident: 10.1016/j.jns.2021.120016_bb0130 article-title: Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease publication-title: J. Neurol. Sci. doi: 10.1016/j.jns.2017.06.034 – volume: 5 start-page: 223 issue: 2 year: 2018 ident: 10.1016/j.jns.2021.120016_bb0485 article-title: The “stutter-step”: a peculiar gait feature in advanced Huntington’s disease and chorea-Acanthocytosis publication-title: Move. Disord. Clin. Pract. doi: 10.1002/mdc3.12586 – volume: 34 start-page: 1200 issue: 9 year: 2013 ident: 10.1016/j.jns.2021.120016_bb0230 article-title: The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive parkinsonism with generalized seizures publication-title: Hum. Mutat. doi: 10.1002/humu.22372 – volume: 65 start-page: 91 year: 2019 ident: 10.1016/j.jns.2021.120016_bb0535 article-title: Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: a report of two Italian families publication-title: Parkinsonism Relat. Disord. doi: 10.1016/j.parkreldis.2019.05.001 – volume: 135 start-page: 3453 issue: Pt 11 year: 2012 ident: 10.1016/j.jns.2021.120016_bb0075 article-title: Antibodies to surface dopamine-2 receptor in autoimmune movement and psychiatric disorders publication-title: Brain doi: 10.1093/brain/aws256 – volume: 88 start-page: 251 issue: 2 year: 2020 ident: 10.1016/j.jns.2021.120016_bb0365 article-title: Clinico-genetic, imaging and molecular delineation of COQ8A-Ataxia: a multicenter study of 59 patients publication-title: Ann. Neurol. doi: 10.1002/ana.25751 – volume: 106 start-page: 570 issue: 4 year: 2020 ident: 10.1016/j.jns.2021.120016_bb0430 article-title: De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, Leukoencephalopathy, and neurologic Decompensation publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2020.02.016 – volume: 30 start-page: 1591 issue: 12 year: 2015 ident: 10.1016/j.jns.2021.120016_bb0020 article-title: MDS clinical diagnostic criteria for Parkinson’s disease publication-title: Mov. Disord. doi: 10.1002/mds.26424 – volume: 21 start-page: 1473 issue: 12 year: 2015 ident: 10.1016/j.jns.2021.120016_bb0315 article-title: A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism publication-title: Parkinsonism Relat. Disord. doi: 10.1016/j.parkreldis.2015.10.001 – volume: 6 start-page: 37 issue: 1 year: 2017 ident: 10.1016/j.jns.2021.120016_bb0490 article-title: A systematic review of the Huntington disease-like 2 phenotype publication-title: J. Huntingtons Dis. doi: 10.3233/JHD-160232 – volume: 33 start-page: 1119 issue: 7 year: 2018 ident: 10.1016/j.jns.2021.120016_bb0530 article-title: Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14 publication-title: Mov. Disord. doi: 10.1002/mds.27334 – volume: 7 issue: 1 year: 2021 ident: 10.1016/j.jns.2021.120016_bb0335 article-title: NR4A2 mutations can cause intellectual disability and language impairment with persistent Dystonia-parkinsonism publication-title: Neurol. Genet. doi: 10.1212/NXG.0000000000000543 – volume: 28 start-page: 2035 issue: 14 year: 2013 ident: 10.1016/j.jns.2021.120016_bb0140 article-title: Early onset dystonia and parkinsonism with abnormal globus pallidal signal in MRI: a diagnostic challenge publication-title: Mov. Disord. doi: 10.1002/mds.25622 – volume: 85 start-page: 827 issue: 7 year: 2014 ident: 10.1016/j.jns.2021.120016_bb0470 article-title: Isolated limb dystonia as presenting feature of Parkin disease publication-title: J. Neurol. Neurosurg. Psychiatry doi: 10.1136/jnnp-2013-307294 – volume: 72 start-page: 460 issue: 4 year: 2015 ident: 10.1016/j.jns.2021.120016_bb0495 article-title: Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization publication-title: JAMA Neurol. doi: 10.1001/jamaneurol.2014.3889 – volume: 2 start-page: 149 issue: 2 year: 2015 ident: 10.1016/j.jns.2021.120016_bb0370 article-title: SPG11 mutations associated with a complex phenotype resembling Dopa-responsive Dystonia publication-title: Mov. Disord. Clin. Pract. doi: 10.1002/mdc3.12144 – volume: 82 start-page: 2250 issue: 24 year: 2014 ident: 10.1016/j.jns.2021.120016_bb0395 article-title: Antecollis and levodopa-responsive parkinsonism are late features of Dravet syndrome publication-title: Neurology doi: 10.1212/WNL.0000000000000521 – volume: 23 start-page: 1267 issue: 5 year: 2014 ident: 10.1016/j.jns.2021.120016_bb0630 article-title: Early-onset dystonia after supplementary motor area infarction publication-title: J. Stroke Cerebrovasc. Dis. doi: 10.1016/j.jstrokecerebrovasdis.2013.09.028 – volume: 88 start-page: 116 year: 2021 ident: 10.1016/j.jns.2021.120016_bb0080 article-title: Movement disorders in systemic autoimmune diseases: clinical spectrum, ancillary investigations, pathophysiological considerations publication-title: Parkinsonism Relat. Disord. doi: 10.1016/j.parkreldis.2021.05.026 – volume: 1 start-page: 45 issue: 1 year: 2014 ident: 10.1016/j.jns.2021.120016_bb0480 article-title: Atypical parkinsonism-Dystonia syndrome caused by a novel DJ1 mutation publication-title: Move. Disord. Clin. Pract. doi: 10.1002/mdc3.12008 – volume: 356 start-page: 65 issue: 1–2 year: 2015 ident: 10.1016/j.jns.2021.120016_bb0425 article-title: Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: clinical, molecular and biochemical characterization in three sibs publication-title: J. Neurol. Sci. doi: 10.1016/j.jns.2015.05.021 – start-page: 9 year: 2019 ident: 10.1016/j.jns.2021.120016_bb0180 article-title: Generalized Dystonia and paroxysmal dystonic attacks due to a novel ATP1A3 variant publication-title: Tremor. Other Hyperkinet. Mov. (N Y) – volume: 6 start-page: 553 year: 2017 ident: 10.1016/j.jns.2021.120016_bb0400 article-title: Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability publication-title: F1000Res doi: 10.12688/f1000research.10588.1 – volume: 66 start-page: 25 year: 2019 ident: 10.1016/j.jns.2021.120016_bb0545 article-title: Dystonia in atypical parkinsonian disorders publication-title: Parkinsonism Relat. Disord. doi: 10.1016/j.parkreldis.2019.07.030 – volume: 27 start-page: 1295 issue: 10 year: 2012 ident: 10.1016/j.jns.2021.120016_bb0280 article-title: Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency publication-title: Mov. Disord. doi: 10.1002/mds.25008 – volume: 73 start-page: 668 issue: 6 year: 2016 ident: 10.1016/j.jns.2021.120016_bb0610 article-title: Clinical, genetic, and radiological features of extrapyramidal movement disorders in mitochondrial disease publication-title: JAMA Neurol. doi: 10.1001/jamaneurol.2016.0355 – volume: 51 start-page: 730 issue: 5 year: 1988 ident: 10.1016/j.jns.2021.120016_bb0635 article-title: Parkinsonian syndrome caused by a tumour of the left supplementary motor area publication-title: J. Neurol. Neurosurg. Psychiatry doi: 10.1136/jnnp.51.5.730 – volume: 88 start-page: 843 issue: 4 year: 2020 ident: 10.1016/j.jns.2021.120016_bb0475 article-title: Characterization of recessive Parkinson disease in a large multicenter study publication-title: Ann. Neurol. doi: 10.1002/ana.25787 – volume: 35 start-page: 2360 issue: 12 year: 2020 ident: 10.1016/j.jns.2021.120016_bb0540 article-title: Parkinsonism and Nigrostriatal damage secondary to CSF1R-related primary Microgliopathy publication-title: Mov. Disord. doi: 10.1002/mds.28290 – volume: 35 start-page: 1933 issue: 11 year: 2020 ident: 10.1016/j.jns.2021.120016_bb0455 article-title: Expanding data collection for the MDSGene database: X-linked Dystonia-parkinsonism as use case example publication-title: Mov. Disord. doi: 10.1002/mds.28289 – volume: 16 start-page: 962 issue: 5 year: 2001 ident: 10.1016/j.jns.2021.120016_bb0640 article-title: Primary central nervous system lymphoma in the SMA presenting as rapidly progressive parkinsonism publication-title: Mov. Disord. doi: 10.1002/mds.1193 – volume: 5 start-page: 317 year: 2015 ident: 10.1016/j.jns.2021.120016_bb0445 article-title: PLA2G6-associated Dystonia-Parkinsonism: case report and literature review publication-title: Tremor. Other Hyperkinet. Mov. (N Y) doi: 10.5334/tohm.254 – volume: 20 start-page: 17 issue: 1 year: 2020 ident: 10.1016/j.jns.2021.120016_bb0355 article-title: Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature publication-title: BMC Neurol. doi: 10.1186/s12883-019-1586-x – volume: 63 start-page: 109 issue: 1 year: 2015 ident: 10.1016/j.jns.2021.120016_bb0045 article-title: Subacute sclerosing panencephalitis masquerading as rapid-onset dystonia-parkinsonism in a child publication-title: Neurol. India doi: 10.4103/0028-3886.152678 – volume: 33 start-page: 1814 issue: 11 year: 2018 ident: 10.1016/j.jns.2021.120016_bb0310 article-title: PTRHD1 loss-of-function mutation in an african family with juvenile-onset parkinsonism and intellectual disability publication-title: Mov. Disord. doi: 10.1002/mds.27501 – volume: 16 start-page: 101 issue: 1 year: 2009 ident: 10.1016/j.jns.2021.120016_bb0440 article-title: R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family publication-title: Eur. J. Neurol. doi: 10.1111/j.1468-1331.2008.02356.x – volume: 10 start-page: 652 year: 2019 ident: 10.1016/j.jns.2021.120016_bb0040 article-title: Infectious etiologies of parkinsonism: Pathomechanisms and clinical implications publication-title: Front. Neurol. doi: 10.3389/fneur.2019.00652 – volume: 11 start-page: 567 issue: 10 year: 2015 ident: 10.1016/j.jns.2021.120016_bb0125 article-title: Monoamine neurotransmitter disorders--clinical advances and future perspectives publication-title: Nat. Rev. Neurol. doi: 10.1038/nrneurol.2015.172 – volume: 43 start-page: 567 issue: 4 year: 2016 ident: 10.1016/j.jns.2021.120016_bb0295 article-title: The incidence and evolution of Parkinsonian rigidity in Rett syndrome: a pilot study publication-title: Can. J. Neurol. Sci. doi: 10.1017/cjn.2016.8 – volume: 27 start-page: 160 issue: 1 year: 2012 ident: 10.1016/j.jns.2021.120016_bb0305 article-title: Generalized dystonia, athetosis, and parkinsonism associated with FOXG1 mutation publication-title: Mov. Disord. doi: 10.1002/mds.23956 – volume: 7 start-page: 207 issue: 3 year: 2008 ident: 10.1016/j.jns.2021.120016_bb0245 article-title: DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA publication-title: Lancet Neurol. doi: 10.1016/S1474-4422(08)70022-X – volume: 64 start-page: 319 year: 2019 ident: 10.1016/j.jns.2021.120016_bb0380 article-title: Parkinsonism in PGK1 deficiency implicates the glycolytic pathway in nigrostriatal dysfunction publication-title: Parkinsonism Relat. Disord. doi: 10.1016/j.parkreldis.2019.04.004 – volume: 90 start-page: 724 issue: 6 year: 2019 ident: 10.1016/j.jns.2021.120016_bb0085 article-title: The movement disorder associated with NMDAR antibody-encephalitis is complex and characteristic: an expert video-rating study publication-title: J. Neurol. Neurosurg. Psychiatry doi: 10.1136/jnnp-2018-318584 – volume: 22 start-page: 233 issue: 2 year: 2020 ident: 10.1016/j.jns.2021.120016_bb0415 article-title: Early parkinsonism in a Senegalese girl with Lafora disease publication-title: Epileptic Disord. doi: 10.1684/epd.2020.1150 – volume: 15 start-page: 537 issue: 3 year: 2000 ident: 10.1016/j.jns.2021.120016_bb0115 article-title: Parkinsonism, dystonia, and hemiatrophy publication-title: Mov. Disord. doi: 10.1002/1531-8257(200005)15:3<537::AID-MDS1018>3.0.CO;2-3 – volume: 26 start-page: 1556 issue: 8 year: 2011 ident: 10.1016/j.jns.2021.120016_bb0030 article-title: Parkinsonism and dystonia associated with adalimumab publication-title: Mov. Disord. doi: 10.1002/mds.23548 – volume: 143 start-page: 751 issue: 3 year: 2020 ident: 10.1016/j.jns.2021.120016_bb0120 article-title: Clinical and neuroimaging phenotypes of genetic parkinsonism from infancy to adolescence publication-title: Brain doi: 10.1093/brain/awz345 – volume: 139 start-page: 2420 issue: Pt 9 year: 2016 ident: 10.1016/j.jns.2021.120016_bb0225 article-title: Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline publication-title: Brain doi: 10.1093/brain/aww180 – volume: 36 start-page: 1086 year: 2021 ident: 10.1016/j.jns.2021.120016_bb0260 article-title: Genotype–phenotype relations for isolated dystonia genes: MDSGene systematic review publication-title: Mov. Disord. doi: 10.1002/mds.28485 – volume: 88 start-page: 1028 issue: 5 year: 2020 ident: 10.1016/j.jns.2021.120016_bb0345 article-title: Early-onset parkinsonism is a manifestation of the PPP2R5D p.E200K mutation publication-title: Ann. Neurol. doi: 10.1002/ana.25863 – volume: 19 start-page: 320 issue: 3 year: 2013 ident: 10.1016/j.jns.2021.120016_bb0215 article-title: DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability publication-title: Parkinsonism Relat. Disord. doi: 10.1016/j.parkreldis.2012.11.006 – volume: 135 start-page: 2994 issue: Pt 10 year: 2012 ident: 10.1016/j.jns.2021.120016_bb0600 article-title: Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort publication-title: Brain doi: 10.1093/brain/aws224 – volume: 1 start-page: 151 issue: 2 year: 1986 ident: 10.1016/j.jns.2021.120016_bb0675 article-title: Parkinsonism following dystonia in three patients publication-title: Mov. Disord. doi: 10.1002/mds.870010210 – volume: 3 start-page: 355 issue: 4 year: 2016 ident: 10.1016/j.jns.2021.120016_bb0585 article-title: Clinicopathological correlates in a PRNP P102L mutation carrier with rapidly progressing parkinsonism-dystonia publication-title: Mov. Disord. Clin. Pract. doi: 10.1002/mdc3.12307 – volume: 33 start-page: 1857 issue: 12 year: 2018 ident: 10.1016/j.jns.2021.120016_bb0555 article-title: Genotype-phenotype relations for the Parkinson’s disease genes SNCA, LRRK2, VPS35: MDSGene systematic review publication-title: Mov. Disord. doi: 10.1002/mds.27527 – volume: 90 start-page: 467 issue: 3 year: 2012 ident: 10.1016/j.jns.2021.120016_bb0145 article-title: Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2012.01.017 – volume: 4 start-page: 25 issue: 1 year: 2018 ident: 10.1016/j.jns.2021.120016_bb0005 article-title: Dystonia publication-title: Nat. Rev. Dis. Prim. doi: 10.1038/s41572-018-0023-6 – volume: 7 start-page: 118 issue: 1 year: 2020 ident: 10.1016/j.jns.2021.120016_bb0300 article-title: Parkinsonism, intellectual disability, and catatonia in a young male with MECP2 variant publication-title: Mov. Disord. Clin. Pract. doi: 10.1002/mdc3.12865 – volume: 43 start-page: 566 issue: 4 year: 2021 ident: 10.1016/j.jns.2021.120016_bb0185 article-title: Rapid-onset dystonia-parkinsonism with ATP1A3 mutation and left lower limb paroxysmal dystonia publication-title: Brain and Development doi: 10.1016/j.braindev.2020.12.009 – volume: 29 start-page: 1758 issue: 14 year: 2014 ident: 10.1016/j.jns.2021.120016_bb0550 article-title: The phenotypic spectrum of progressive supranuclear palsy: a retrospective multicenter study of 100 definite cases publication-title: Mov. Disord. doi: 10.1002/mds.26054 – volume: 21 start-page: 121 issue: 2 year: 2020 ident: 10.1016/j.jns.2021.120016_bb0285 article-title: POLR3A variants with striatal involvement and extrapyramidal movement disorder publication-title: Neurogenetics doi: 10.1007/s10048-019-00602-4 – volume: 62 start-page: 236 year: 2019 ident: 10.1016/j.jns.2021.120016_bb0670 article-title: Craniocervical dystonia with levodopa-responsive parkinsonism co-segregating with a pathogenic ANO3 mutation in a Taiwanese family publication-title: Parkinsonism Relat. Disord. doi: 10.1016/j.parkreldis.2019.01.020 – volume: 261 start-page: 435 issue: 2 year: 2014 ident: 10.1016/j.jns.2021.120016_bb0375 article-title: SPG15: a cause of juvenile atypical levodopa responsive parkinsonism publication-title: J. Neurol. doi: 10.1007/s00415-013-7216-4 – volume: 11 issue: 4 year: 2016 ident: 10.1016/j.jns.2021.120016_bb0560 article-title: Characterization of movement disorder phenomenology in genetically proven, familial Frontotemporal lobar degeneration: a systematic review and meta-analysis publication-title: PLoS One doi: 10.1371/journal.pone.0153852 – volume: 26 start-page: 351 issue: 2 year: 2011 ident: 10.1016/j.jns.2021.120016_bb0095 article-title: Isolated hemidystonia associated with NMDA receptor antibodies publication-title: Mov. Disord. doi: 10.1002/mds.23315 – volume: 36 start-page: 1038 issue: 4 year: 2021 ident: 10.1016/j.jns.2021.120016_bb0265 article-title: PRKRA-related disorders: bilateral striatal degeneration in addition to DYT16 Spectrum publication-title: Mov. Disord. doi: 10.1002/mds.28492 – volume: 20 start-page: 101 issue: 1 year: 2020 ident: 10.1016/j.jns.2021.120016_bb0450 article-title: Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review publication-title: BMC Neurol. doi: 10.1186/s12883-020-01684-6 – volume: 29 start-page: 1504 issue: 12 year: 2014 ident: 10.1016/j.jns.2021.120016_bb0255 article-title: DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family publication-title: Mov. Disord. doi: 10.1002/mds.25981 – volume: 64 start-page: 104123 issue: 1 year: 2021 ident: 10.1016/j.jns.2021.120016_bb0340 article-title: Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder publication-title: Eur. J. Med. Genet. doi: 10.1016/j.ejmg.2020.104123 – volume: 2019 start-page: 7615605 year: 2019 ident: 10.1016/j.jns.2021.120016_bb0605 article-title: CAPN1 variants as cause of hereditary spastic paraplegia type 76 publication-title: Case Rep. Neurol. Med. – volume: 28 start-page: 863 issue: 7 year: 2013 ident: 10.1016/j.jns.2021.120016_bb0015 article-title: Phenomenology and classification of dystonia: a consensus update publication-title: Mov. Disord. doi: 10.1002/mds.25475 – volume: 36 start-page: 1499 year: 2021 ident: 10.1016/j.jns.2021.120016_bb0200 article-title: Genotype–phenotype relations for the atypical parkinsonism genes: MDSGene systematic review publication-title: Mov. Disord. doi: 10.1002/mds.28517 – volume: 8 start-page: 279 issue: 2 year: 2021 ident: 10.1016/j.jns.2021.120016_bb0660 article-title: Parkinsonism and positive dopamine transporter imaging in a patient with a novel KMT2B variant publication-title: Mov. Disord. Clin. Pract. doi: 10.1002/mdc3.13140 – volume: 7 start-page: 448 issue: 4 year: 2020 ident: 10.1016/j.jns.2021.120016_bb0460 article-title: Phasic knee bending dystonic and Parkinsonian gait: a characteristic finding in X-linked Dystonia parkinsonism publication-title: Move. Disord. Clin. Pract. doi: 10.1002/mdc3.12929 – volume: 34 start-page: 1547 issue: 10 year: 2019 ident: 10.1016/j.jns.2021.120016_bb0595 article-title: Parkinsonism and spastic paraplegia type 7: expanding the spectrum of mitochondrial parkinsonism publication-title: Mov. Disord. doi: 10.1002/mds.27812 – volume: 64 start-page: 1051 issue: 4 year: 2018 ident: 10.1016/j.jns.2021.120016_bb0580 article-title: Unusual clinical presentations challenging the early clinical diagnosis of Creutzfeldt-Jakob disease publication-title: J. Alzheimers Dis. doi: 10.3233/JAD-180123 – volume: 101 start-page: 267 issue: 2 year: 2017 ident: 10.1016/j.jns.2021.120016_bb0350 article-title: Heterozygous De novo UBTF gain-of-function variant is associated with Neurodegeneration in childhood publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2017.07.002 |
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| Snippet | The links between the two archetypical basal ganglia disorders, dystonia and parkinsonism, are manifold and stem from clinical observations, imaging studies,... AbstractThe links between the two archetypical basal ganglia disorders, dystonia and parkinsonism, are manifold and stem from clinical observations, imaging... |
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| SubjectTerms | Animals Dystonia Dystonia - complications Dystonia - diagnosis Dystonia - genetics Dystonic Disorders - complications Dystonic Disorders - diagnosis Dystonic Disorders - genetics Humans Levodopa Movement Disorders - complications Neurology Parkinsonian Disorders - diagnostic imaging Parkinsonian Disorders - genetics Parkinsonism |
| Title | Parkinsonism and dystonia: Clinical spectrum and diagnostic clues |
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