Familial writer’s cramp: a clinical clue for inherited coenzyme Q10 deficiency

The spectrum of coenzyme Q 10 (CoQ 10 ) deficiency syndromes comprises a variety of disorders, including a form of autosomal recessive cerebellar ataxia (ARCA2) caused by mutations in the AarF domain–containing kinase 3 gene ( ADCK3 ). Due to the potential response to CoQ 10 supplementation, a timel...

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Vydané v:	Neurogenetics Ročník 22; číslo 1; s. 81 - 86
Hlavní autori:	Amprosi, Matthias, Zech, Michael, Steiger, Ruth, Nachbauer, Wolfgang, Eigentler, Andreas, Gizewski, Elke R., Guger, Michael, Indelicato, Elisabetta, Boesch, Sylvia
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	Berlin/Heidelberg Springer Berlin Heidelberg 01.03.2021 Springer Nature B.V
Predmet:	Ataxia Biomedical and Life Sciences Biomedicine Cerebellar ataxia Cerebellum Coenzyme Q10 Differential diagnosis Human Genetics Molecular Medicine Neurology Neurosciences Short Communication Supplements Magnetic resonance spectroscopy Ataxia Coenzyme Q Ubiquinone Dystonia Mitochondrial disease
ISSN:	1364-6745, 1364-6753, 1364-6753
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Abstract	The spectrum of coenzyme Q 10 (CoQ 10 ) deficiency syndromes comprises a variety of disorders, including a form of autosomal recessive cerebellar ataxia (ARCA2) caused by mutations in the AarF domain–containing kinase 3 gene ( ADCK3 ). Due to the potential response to CoQ 10 supplementation, a timely diagnosis is crucial. Herein, we describe two siblings with a novel homozygous ADCK3 variant and an unusual presentation consisting of isolated writer’s cramp with adult-onset. Cerebellar ataxia developed later in the disease course and remained stable during the follow-up. This report highlights that ARCA2 should be considered in the differential diagnosis of familial writer’s cramp.
AbstractList	The spectrum of coenzyme Q10 (CoQ10) deficiency syndromes comprises a variety of disorders, including a form of autosomal recessive cerebellar ataxia (ARCA2) caused by mutations in the AarF domain–containing kinase 3 gene (ADCK3). Due to the potential response to CoQ10 supplementation, a timely diagnosis is crucial. Herein, we describe two siblings with a novel homozygous ADCK3 variant and an unusual presentation consisting of isolated writer’s cramp with adult-onset. Cerebellar ataxia developed later in the disease course and remained stable during the follow-up. This report highlights that ARCA2 should be considered in the differential diagnosis of familial writer’s cramp. The spectrum of coenzyme Q 10 (CoQ 10 ) deficiency syndromes comprises a variety of disorders, including a form of autosomal recessive cerebellar ataxia (ARCA2) caused by mutations in the AarF domain–containing kinase 3 gene ( ADCK3 ). Due to the potential response to CoQ 10 supplementation, a timely diagnosis is crucial. Herein, we describe two siblings with a novel homozygous ADCK3 variant and an unusual presentation consisting of isolated writer’s cramp with adult-onset. Cerebellar ataxia developed later in the disease course and remained stable during the follow-up. This report highlights that ARCA2 should be considered in the differential diagnosis of familial writer’s cramp. The spectrum of coenzyme Q10 (CoQ10) deficiency syndromes comprises a variety of disorders, including a form of autosomal recessive cerebellar ataxia (ARCA2) caused by mutations in the AarF domain-containing kinase 3 gene (ADCK3). Due to the potential response to CoQ10 supplementation, a timely diagnosis is crucial. Herein, we describe two siblings with a novel homozygous ADCK3 variant and an unusual presentation consisting of isolated writer's cramp with adult-onset. Cerebellar ataxia developed later in the disease course and remained stable during the follow-up. This report highlights that ARCA2 should be considered in the differential diagnosis of familial writer's cramp.The spectrum of coenzyme Q10 (CoQ10) deficiency syndromes comprises a variety of disorders, including a form of autosomal recessive cerebellar ataxia (ARCA2) caused by mutations in the AarF domain-containing kinase 3 gene (ADCK3). Due to the potential response to CoQ10 supplementation, a timely diagnosis is crucial. Herein, we describe two siblings with a novel homozygous ADCK3 variant and an unusual presentation consisting of isolated writer's cramp with adult-onset. Cerebellar ataxia developed later in the disease course and remained stable during the follow-up. This report highlights that ARCA2 should be considered in the differential diagnosis of familial writer's cramp.
Author	Amprosi, Matthias Gizewski, Elke R. Boesch, Sylvia Steiger, Ruth Eigentler, Andreas Indelicato, Elisabetta Zech, Michael Guger, Michael Nachbauer, Wolfgang
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Cites_doi	10.1136/jnnp-2013-306483 10.1002/mds.26808 10.1038/gim.2015.30 10.1016/B978-0-444-64189-2.00005-6 10.1111/cge.12742 10.1016/j.ajhg.2007.12.024 10.1038/s41436-018-0007-7 10.1212/01.wnl.0000219042.60538.92 10.1007/8904_2013_251 10.1038/gim.2013.28 10.1007/s11064-019-02786-5 10.1016/j.ajhg.2007.12.022 10.1016/j.parkreldis.2019.09.015 10.1136/jnnp-2011-301258 10.1186/1750-1172-8-173 10.1002/mds.27140 10.1002/mdc3.12667 10.1001/archneurol.2012.206 10.1530/ey.17.14.3
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References	Zech, Boesch, Jochim, Weber, Meindl, Schormair, Wieland, Lunetta, Sansone, Messner, Mueller, Ceballos-Baumann, Strom, Colombo, Poewe, Haslinger, Winkelmann (CR9) 2017; 32 Liu, Hersheson, Plagnol, Fawcett, Duberley, Preza (CR12) 2014; 85 Sun, Johnson, Nelakuditi, Guidugli, Fischer, Arndt, Ma, Sandford, Shakkottai, Boycott, Chardon, Li, del Gaudio, Burmeister, Gomez, Waggoner, Das (CR15) 2019; 21 Chang, Ruiz-Lopez, Slow, Tarnopolsky, Lang, Munhoz (CR7) 2018; 5 Jinnah, Albanese, Bhatia, Cardoso, Da Prat, de Koning (CR20) 2018; 33 Jayadev, Bird (CR19) 2013; 15 Horvath, Czermin, Gulati, Demuth, Houge, Pyle, Dineiger, Blakely, Hassani, Foley, Brodhun, Storm, Kirschner, Gorman, Lochmüller, Holinski-Feder, Taylor, Chinnery (CR5) 2012; 83 Richards, Aziz, Bale, Bick, Das, Gastier-Foster (CR11) 2015; 17 Schmitz-Hubsch, du Montcel, Baliko, Berciano, Boesch, Depondt (CR8) 2006; 66 CR17 Emmanuele, Lopez, Berardo, Naini, Tadesse, Wen (CR1) 2012; 69 Mollet, Delahodde, Serre, Chretien, Schlemmer, Lombes, Boddaert, Desguerre, de Lonlay, Ogier de Baulny, Munnich, Rötig (CR4) 2008; 82 Shalata, Edery, Habib, Genizi, Mahroum, Khalaily, Assaf, Segal, Abed el Rahim, Shapira, Urian, Tzur, Douiev, Saada (CR6) 2019; 44 Synofzik, Németh (CR18) 2018; 155 Lagier-Tourenne, Tazir, Lopez, Quinzii, Assoum, Drouot (CR2) 2008; 82 CR10 Blumkin, Leshinsky-Silver, Zerem, Yosovich, Lerman-Sagie, Lev (CR16) 2014; 12 Barca, Musumeci, Montagnese, Marino, Granata, Nunnari, Peverelli, DiMauro, Quinzii, Toscano (CR13) 2016; 90 Mignot, Apartis, Durr, Marques Lourenco, Charles, Devos (CR14) 2013; 8 Galosi, Barca, Carrozzo, Schirinzi, Quinzii, Lieto, Vasco, Zanni, di Nottia, Galatolo, Filla, Bertini, Santorelli, Leuzzi, Haas, Hirano, Friedman (CR3) 2019; 68 R Horvath (624_CR5) 2012; 83 C Lagier-Tourenne (624_CR2) 2008; 82 A Chang (624_CR7) 2018; 5 E Barca (624_CR13) 2016; 90 YT Liu (624_CR12) 2014; 85 C Mignot (624_CR14) 2013; 8 S Jayadev (624_CR19) 2013; 15 T Schmitz-Hubsch (624_CR8) 2006; 66 M Sun (624_CR15) 2019; 21 A Shalata (624_CR6) 2019; 44 624_CR17 S Galosi (624_CR3) 2019; 68 M Synofzik (624_CR18) 2018; 155 624_CR10 M Zech (624_CR9) 2017; 32 L Blumkin (624_CR16) 2014; 12 V Emmanuele (624_CR1) 2012; 69 J Mollet (624_CR4) 2008; 82 HA Jinnah (624_CR20) 2018; 33 S Richards (624_CR11) 2015; 17
References_xml	– volume: 85 start-page: 493 issue: 5 year: 2014 end-page: 498 ident: CR12 article-title: Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation publication-title: J Neurol Neurosurg Psychiatry doi: 10.1136/jnnp-2013-306483 – volume: 32 start-page: 549 issue: 4 year: 2017 end-page: 559 ident: CR9 article-title: Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up publication-title: Mov Disord doi: 10.1002/mds.26808 – volume: 17 start-page: 405 issue: 5 year: 2015 end-page: 423 ident: CR11 article-title: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology publication-title: Genet Med doi: 10.1038/gim.2015.30 – volume: 155 start-page: 73 year: 2018 end-page: 89 ident: CR18 article-title: Recessive ataxias publication-title: Handb Clin Neurol doi: 10.1016/B978-0-444-64189-2.00005-6 – volume: 90 start-page: 156 issue: 2 year: 2016 end-page: 160 ident: CR13 article-title: Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3 publication-title: Clin Genet doi: 10.1111/cge.12742 – volume: 82 start-page: 661 issue: 3 year: 2008 end-page: 672 ident: CR2 article-title: ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2007.12.024 – volume: 21 start-page: 195 issue: 1 year: 2019 end-page: 206 ident: CR15 article-title: Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes publication-title: Genet Med doi: 10.1038/s41436-018-0007-7 – ident: CR17 – volume: 66 start-page: 1717 issue: 11 year: 2006 end-page: 1720 ident: CR8 article-title: Scale for the assessment and rating of ataxia: development of a new clinical scale publication-title: Neurology. doi: 10.1212/01.wnl.0000219042.60538.92 – volume: 12 start-page: 103 year: 2014 end-page: 107 ident: CR16 article-title: Heterozygous mutations in the ADCK3 gene in siblings with cerebellar atrophy and extreme phenotypic variability publication-title: JIMD Rep doi: 10.1007/8904_2013_251 – volume: 15 start-page: 673 issue: 9 year: 2013 end-page: 683 ident: CR19 article-title: Hereditary ataxias: overview publication-title: Genet Medicine. doi: 10.1038/gim.2013.28 – ident: CR10 – volume: 44 start-page: 2372 issue: 10 year: 2019 end-page: 2384 ident: CR6 article-title: Primary coenzyme Q deficiency due to novel ADCK3 variants, studies in fibroblasts and review of literature publication-title: Neurochem Res doi: 10.1007/s11064-019-02786-5 – volume: 82 start-page: 623 issue: 3 year: 2008 end-page: 630 ident: CR4 article-title: CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2007.12.022 – volume: 68 start-page: 8 year: 2019 end-page: 16 ident: CR3 article-title: Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: a case series and literature review publication-title: Parkinsonism Relat Disord doi: 10.1016/j.parkreldis.2019.09.015 – volume: 83 start-page: 174 issue: 2 year: 2012 end-page: 178 ident: CR5 article-title: Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3 publication-title: J Neurol Neurosurg Psychiatry doi: 10.1136/jnnp-2011-301258 – volume: 8 start-page: 173 year: 2013 ident: CR14 article-title: Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression publication-title: Orphanet J Rare Dis doi: 10.1186/1750-1172-8-173 – volume: 33 start-page: 21 issue: 1 year: 2018 end-page: 35 ident: CR20 article-title: Treatable inherited rare movement disorders publication-title: Mov Disord doi: 10.1002/mds.27140 – volume: 5 start-page: 635 issue: 6 year: 2018 end-page: 639 ident: CR7 article-title: ADCK3-related coenzyme Q10 deficiency: a potentially treatable genetic disease publication-title: Mov Disord Clin Pract doi: 10.1002/mdc3.12667 – volume: 69 start-page: 978 issue: 8 year: 2012 end-page: 983 ident: CR1 article-title: Heterogeneity of coenzyme Q10 deficiency: patient study and literature review publication-title: Arch Neurol doi: 10.1001/archneurol.2012.206 – ident: 624_CR17 – volume: 66 start-page: 1717 issue: 11 year: 2006 ident: 624_CR8 publication-title: Neurology. doi: 10.1212/01.wnl.0000219042.60538.92 – volume: 21 start-page: 195 issue: 1 year: 2019 ident: 624_CR15 publication-title: Genet Med doi: 10.1038/s41436-018-0007-7 – volume: 17 start-page: 405 issue: 5 year: 2015 ident: 624_CR11 publication-title: Genet Med doi: 10.1038/gim.2015.30 – volume: 68 start-page: 8 year: 2019 ident: 624_CR3 publication-title: Parkinsonism Relat Disord doi: 10.1016/j.parkreldis.2019.09.015 – volume: 90 start-page: 156 issue: 2 year: 2016 ident: 624_CR13 publication-title: Clin Genet doi: 10.1111/cge.12742 – volume: 69 start-page: 978 issue: 8 year: 2012 ident: 624_CR1 publication-title: Arch Neurol doi: 10.1001/archneurol.2012.206 – volume: 82 start-page: 623 issue: 3 year: 2008 ident: 624_CR4 publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2007.12.022 – volume: 85 start-page: 493 issue: 5 year: 2014 ident: 624_CR12 publication-title: J Neurol Neurosurg Psychiatry doi: 10.1136/jnnp-2013-306483 – volume: 33 start-page: 21 issue: 1 year: 2018 ident: 624_CR20 publication-title: Mov Disord doi: 10.1002/mds.27140 – volume: 83 start-page: 174 issue: 2 year: 2012 ident: 624_CR5 publication-title: J Neurol Neurosurg Psychiatry doi: 10.1136/jnnp-2011-301258 – volume: 155 start-page: 73 year: 2018 ident: 624_CR18 publication-title: Handb Clin Neurol doi: 10.1016/B978-0-444-64189-2.00005-6 – volume: 8 start-page: 173 year: 2013 ident: 624_CR14 publication-title: Orphanet J Rare Dis doi: 10.1186/1750-1172-8-173 – volume: 15 start-page: 673 issue: 9 year: 2013 ident: 624_CR19 publication-title: Genet Medicine. doi: 10.1038/gim.2013.28 – volume: 12 start-page: 103 year: 2014 ident: 624_CR16 publication-title: JIMD Rep doi: 10.1007/8904_2013_251 – volume: 82 start-page: 661 issue: 3 year: 2008 ident: 624_CR2 publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2007.12.024 – ident: 624_CR10 doi: 10.1530/ey.17.14.3 – volume: 32 start-page: 549 issue: 4 year: 2017 ident: 624_CR9 publication-title: Mov Disord doi: 10.1002/mds.26808 – volume: 44 start-page: 2372 issue: 10 year: 2019 ident: 624_CR6 publication-title: Neurochem Res doi: 10.1007/s11064-019-02786-5 – volume: 5 start-page: 635 issue: 6 year: 2018 ident: 624_CR7 publication-title: Mov Disord Clin Pract doi: 10.1002/mdc3.12667
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SubjectTerms	Ataxia Biomedical and Life Sciences Biomedicine Cerebellar ataxia Cerebellum Coenzyme Q10 Differential diagnosis Human Genetics Molecular Medicine Neurology Neurosciences Short Communication Supplements
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Title	Familial writer’s cramp: a clinical clue for inherited coenzyme Q10 deficiency
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