Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations

Introduction Spinocerebellar ataxia type 14 (SCA14) is a dominantly inherited neurological disorder characterized by slowly progressive cerebellar ataxia. SCA14 is caused by mutations in PRKCG, a gene encoding protein kinase C gamma (PKCγ), a master regulator of Purkinje cells development. Methods W...

Full description

Saved in:

Bibliographic Details
Published in:	Journal of neurology Vol. 269; no. 3; pp. 1476 - 1484
Main Authors:	De Michele, Giovanna, Galatolo, Daniele, Galosi, Serena, Mignarri, Andrea, Silvestri, Gabriella, Casali, Carlo, Leuzzi, Vincenzo, Ricca, Ivana, Barghigiani, Melissa, Tessa, Alessandra, Cioffi, Ettore, Caputi, Caterina, Riso, Vittorio, Dotti, Maria Teresa, Saccà, Francesco, De Michele, Giuseppe, Cocozza, Sirio, Filla, Alessandro, Santorelli, Filippo M.
Format:	Journal Article
Language:	English
Published:	Berlin/Heidelberg Springer Berlin Heidelberg 01.03.2022 Springer Nature B.V
Subjects:	Ataxia Cerebellar ataxia Cerebellum Female Genotype & phenotype Hereditary spastic paraplegia Heterozygote Humans Kinases Medicine Medicine & Public Health Mutation Neurology Neuroradiology Neurosciences Next-generation sequencing Original Communication Patients Phenotype Phenotypes Protein kinase C Protein Kinase C - genetics Purkinje cells Spinocerebellar Ataxias - diagnosis Spinocerebellar Ataxias - genetics NGS targeted resequencing panel Novel mutations Spinocerebellar ataxia type 14 Broadened phenotype PRKCG
ISSN:	0340-5354, 1432-1459, 1432-1459
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Abstract	Introduction Spinocerebellar ataxia type 14 (SCA14) is a dominantly inherited neurological disorder characterized by slowly progressive cerebellar ataxia. SCA14 is caused by mutations in PRKCG, a gene encoding protein kinase C gamma (PKCγ), a master regulator of Purkinje cells development. Methods We performed next-generation sequencing targeted resequencing panel encompassing 273 ataxia genes in 358 patients with genetically undiagnosed ataxia. Results We identified fourteen patients in ten families harboring nine pathogenic heterozygous variants in PRKCG , seven of which were novel. We encountered four patients with not previously described phenotypes: one with episodic ataxia, one with a spastic paraparesis dominating her clinical manifestations, and two children with an unusually severe phenotype. Conclusions Our study broadens the genetic and clinical spectrum of SCA14.
AbstractList	Introduction Spinocerebellar ataxia type 14 (SCA14) is a dominantly inherited neurological disorder characterized by slowly progressive cerebellar ataxia. SCA14 is caused by mutations in PRKCG, a gene encoding protein kinase C gamma (PKCγ), a master regulator of Purkinje cells development. Methods We performed next-generation sequencing targeted resequencing panel encompassing 273 ataxia genes in 358 patients with genetically undiagnosed ataxia. Results We identified fourteen patients in ten families harboring nine pathogenic heterozygous variants in PRKCG , seven of which were novel. We encountered four patients with not previously described phenotypes: one with episodic ataxia, one with a spastic paraparesis dominating her clinical manifestations, and two children with an unusually severe phenotype. Conclusions Our study broadens the genetic and clinical spectrum of SCA14. Spinocerebellar ataxia type 14 (SCA14) is a dominantly inherited neurological disorder characterized by slowly progressive cerebellar ataxia. SCA14 is caused by mutations in PRKCG, a gene encoding protein kinase C gamma (PKCγ), a master regulator of Purkinje cells development.INTRODUCTIONSpinocerebellar ataxia type 14 (SCA14) is a dominantly inherited neurological disorder characterized by slowly progressive cerebellar ataxia. SCA14 is caused by mutations in PRKCG, a gene encoding protein kinase C gamma (PKCγ), a master regulator of Purkinje cells development.We performed next-generation sequencing targeted resequencing panel encompassing 273 ataxia genes in 358 patients with genetically undiagnosed ataxia.METHODSWe performed next-generation sequencing targeted resequencing panel encompassing 273 ataxia genes in 358 patients with genetically undiagnosed ataxia.We identified fourteen patients in ten families harboring nine pathogenic heterozygous variants in PRKCG, seven of which were novel. We encountered four patients with not previously described phenotypes: one with episodic ataxia, one with a spastic paraparesis dominating her clinical manifestations, and two children with an unusually severe phenotype.RESULTSWe identified fourteen patients in ten families harboring nine pathogenic heterozygous variants in PRKCG, seven of which were novel. We encountered four patients with not previously described phenotypes: one with episodic ataxia, one with a spastic paraparesis dominating her clinical manifestations, and two children with an unusually severe phenotype.Our study broadens the genetic and clinical spectrum of SCA14.CONCLUSIONSOur study broadens the genetic and clinical spectrum of SCA14. IntroductionSpinocerebellar ataxia type 14 (SCA14) is a dominantly inherited neurological disorder characterized by slowly progressive cerebellar ataxia. SCA14 is caused by mutations in PRKCG, a gene encoding protein kinase C gamma (PKCγ), a master regulator of Purkinje cells development.MethodsWe performed next-generation sequencing targeted resequencing panel encompassing 273 ataxia genes in 358 patients with genetically undiagnosed ataxia.ResultsWe identified fourteen patients in ten families harboring nine pathogenic heterozygous variants in PRKCG, seven of which were novel. We encountered four patients with not previously described phenotypes: one with episodic ataxia, one with a spastic paraparesis dominating her clinical manifestations, and two children with an unusually severe phenotype.ConclusionsOur study broadens the genetic and clinical spectrum of SCA14. Spinocerebellar ataxia type 14 (SCA14) is a dominantly inherited neurological disorder characterized by slowly progressive cerebellar ataxia. SCA14 is caused by mutations in PRKCG, a gene encoding protein kinase C gamma (PKCγ), a master regulator of Purkinje cells development. We performed next-generation sequencing targeted resequencing panel encompassing 273 ataxia genes in 358 patients with genetically undiagnosed ataxia. We identified fourteen patients in ten families harboring nine pathogenic heterozygous variants in PRKCG, seven of which were novel. We encountered four patients with not previously described phenotypes: one with episodic ataxia, one with a spastic paraparesis dominating her clinical manifestations, and two children with an unusually severe phenotype. Our study broadens the genetic and clinical spectrum of SCA14.
Author	Mignarri, Andrea Saccà, Francesco Ricca, Ivana Cioffi, Ettore Galosi, Serena Riso, Vittorio Dotti, Maria Teresa Santorelli, Filippo M. De Michele, Giovanna Galatolo, Daniele Filla, Alessandro Cocozza, Sirio Caputi, Caterina Casali, Carlo Barghigiani, Melissa Silvestri, Gabriella De Michele, Giuseppe Leuzzi, Vincenzo Tessa, Alessandra
Author_xml	– sequence: 1 givenname: Giovanna surname: De Michele fullname: De Michele, Giovanna organization: Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University – sequence: 2 givenname: Daniele surname: Galatolo fullname: Galatolo, Daniele organization: Istituto Di Ricovero E Cura a Carattere Scientifico (IRCCS) – sequence: 3 givenname: Serena surname: Galosi fullname: Galosi, Serena organization: Department of Human Neuroscience, Sapienza University of Rome – sequence: 4 givenname: Andrea surname: Mignarri fullname: Mignarri, Andrea organization: Department of Medicine, Surgery and Neuroscience, Neurology and Neurometabolic Unit, University of Siena – sequence: 5 givenname: Gabriella surname: Silvestri fullname: Silvestri, Gabriella organization: Department of Neurosciences, Faculty of Medicine and Surgery, Catholic University of Sacred Heart, Neurology Unit, Fondazione Policlinico Universitario A. Gemelli, IRCCS – sequence: 6 givenname: Carlo surname: Casali fullname: Casali, Carlo organization: Department of Medical and Surgical Sciences and Biotechnologies, Sapienza University of Rome – sequence: 7 givenname: Vincenzo surname: Leuzzi fullname: Leuzzi, Vincenzo organization: Department of Human Neuroscience, Sapienza University of Rome – sequence: 8 givenname: Ivana surname: Ricca fullname: Ricca, Ivana organization: Istituto Di Ricovero E Cura a Carattere Scientifico (IRCCS) – sequence: 9 givenname: Melissa surname: Barghigiani fullname: Barghigiani, Melissa organization: Istituto Di Ricovero E Cura a Carattere Scientifico (IRCCS) – sequence: 10 givenname: Alessandra surname: Tessa fullname: Tessa, Alessandra organization: Istituto Di Ricovero E Cura a Carattere Scientifico (IRCCS) – sequence: 11 givenname: Ettore surname: Cioffi fullname: Cioffi, Ettore organization: Department of Medical and Surgical Sciences and Biotechnologies, Sapienza University of Rome – sequence: 12 givenname: Caterina surname: Caputi fullname: Caputi, Caterina organization: Department of Human Neuroscience, Sapienza University of Rome – sequence: 13 givenname: Vittorio surname: Riso fullname: Riso, Vittorio organization: Department of Neurosciences, Faculty of Medicine and Surgery, Catholic University of Sacred Heart, Neurology Unit, Fondazione Policlinico Universitario A. Gemelli, IRCCS – sequence: 14 givenname: Maria Teresa surname: Dotti fullname: Dotti, Maria Teresa organization: Department of Medicine, Surgery and Neuroscience, Neurology and Neurometabolic Unit, University of Siena – sequence: 15 givenname: Francesco surname: Saccà fullname: Saccà, Francesco organization: Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University – sequence: 16 givenname: Giuseppe surname: De Michele fullname: De Michele, Giuseppe organization: Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University – sequence: 17 givenname: Sirio surname: Cocozza fullname: Cocozza, Sirio organization: Department of Advanced Biomedical Sciences, Federico II University – sequence: 18 givenname: Alessandro orcidid: 0000-0002-9753-5575 surname: Filla fullname: Filla, Alessandro email: afilla@unina.it organization: Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University – sequence: 19 givenname: Filippo M. surname: Santorelli fullname: Santorelli, Filippo M. organization: Istituto Di Ricovero E Cura a Carattere Scientifico (IRCCS)
BackLink	https://www.ncbi.nlm.nih.gov/pubmed/34292398$$D View this record in MEDLINE/PubMed
BookMark	eNp9kk1v1DAQhi1URLeFP8ABWeLCJeDxxybhgFRV5UOqxAXOluOddF1l7WA7q_bGT8dpulB66MmS53lfv56ZE3Lkg0dCXgN7D4zVHxJjElTFOFTAauCVekZWIAWvQKr2iKyYkKxSQsljcpLSNWOsKYUX5FhI3nLRNivy-2J0KWycpSabG2eo8RuacI8RqfO98dkNSMct-pBvx_mOptH5YAvQ4TCYeBDelUF-pHgzGp9c8DT0NG8fqmdzH_Y40N2UTS5Mekme92ZI-Or-PCU_P1_8OP9aXX7_8u387LKyspa5UtYKYzjWqpcoms7ythNWAvZr1Xdyw0D2CIUBIwRrEFSLppadUA1TXdeKU_Jp8R2nbocbiz5HM-gxup2JtzoYp_-veLfVV2Gvm0bVsJbF4N29QQy_JkxZ71yycws8hilprpQUCkDOb719hF6HKfryPc3XogytVaAK9eZhor9RDsMpQLMANoaUIvbauqVrJaAbNDA974Fe9kCXPdB3e6Bnb_5IenB_UiQWUSqwv8L4L_YTqj83Gseo
CitedBy_id	crossref_primary_10_5334_tohm_747 crossref_primary_10_3389_fnmol_2023_1182431 crossref_primary_10_4103_aian_aian_324_23 crossref_primary_10_3390_ijms22168490 crossref_primary_10_3389_fgene_2023_1129988 crossref_primary_10_1017_cjn_2024_335
Cites_doi	10.1001/archneur.60.12.1749 10.1016/j.mcn.2019.05.005 10.1007/s00415-006-0209-9 10.1002/humu.24024 10.1212/01.wnl.0000219042.60538.92 10.1086/373883 10.1038/gim.2015.30 10.1186/s40478-018-0600-7 10.1002/ana.20628 10.1007/s10048-009-0196-y 10.1016/j.nbd.2014.06.002 10.1001/archneur.61.8.1242 10.1074/jbc.M801492200 10.1212/NXG.0000000000000279 10.1007/s10072-020-04443-0 10.1016/j.ejrad.2018.11.035 10.1007/s00439-005-1278-z 10.1016/0092-8674(95)90148-5 10.1002/mds.20851 10.1002/mds.27334 10.1002/mds.21269 10.1002/acn3.51024 10.1007/s00234-020-02427-7 10.1111/j.1600-0404.2011.01504.x 10.1016/0092-8674(95)90147-7 10.1002/1531-8249(200008)48:2<156::aid-ana4>3.0.co;2-9
ContentType	Journal Article
Copyright	The Author(s) 2021 2021. The Author(s). The Author(s) 2021. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.
Copyright_xml	– notice: The Author(s) 2021 – notice: 2021. The Author(s). – notice: The Author(s) 2021. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.
DBID	C6C AAYXX CITATION CGR CUY CVF ECM EIF NPM 3V. 7TK 7X7 7XB 88E 8AO 8FI 8FJ 8FK ABUWG AFKRA BENPR CCPQU FYUFA GHDGH K9. M0S M1P PHGZM PHGZT PJZUB PKEHL PPXIY PQEST PQQKQ PQUKI PRINS 7X8 5PM
DOI	10.1007/s00415-021-10712-5
DatabaseName	Springer Nature OA Free Journals CrossRef Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed ProQuest Central (Corporate) Neurosciences Abstracts Health & Medical Collection ProQuest Central (purchase pre-March 2016) Medical Database (Alumni Edition) ProQuest Pharma Collection Hospital Premium Collection Hospital Premium Collection (Alumni Edition) ProQuest Central (Alumni) (purchase pre-March 2016) ProQuest Central (Alumni) ProQuest Central UK/Ireland ProQuest Central ProQuest One Health Research Premium Collection Health Research Premium Collection (Alumni) ProQuest Health & Medical Complete (Alumni) Health & Medical Collection (Alumni Edition) PML(ProQuest Medical Library) ProQuest Central Premium ProQuest One Academic ProQuest Health & Medical Research Collection ProQuest One Academic Middle East (New) ProQuest One Health & Nursing ProQuest One Academic Eastern Edition (DO NOT USE) ProQuest One Academic (retired) ProQuest One Academic UKI Edition ProQuest Central China MEDLINE - Academic PubMed Central (Full Participant titles)
DatabaseTitle	CrossRef MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) ProQuest One Academic Middle East (New) ProQuest Health & Medical Complete (Alumni) ProQuest Central (Alumni Edition) ProQuest One Community College ProQuest One Health & Nursing ProQuest Pharma Collection ProQuest Central China ProQuest Central ProQuest Health & Medical Research Collection Health Research Premium Collection Health and Medicine Complete (Alumni Edition) Health & Medical Research Collection ProQuest Central (New) ProQuest Medical Library (Alumni) ProQuest One Academic Eastern Edition ProQuest Hospital Collection Health Research Premium Collection (Alumni) Neurosciences Abstracts ProQuest Hospital Collection (Alumni) ProQuest Health & Medical Complete ProQuest Medical Library ProQuest One Academic UKI Edition ProQuest One Academic ProQuest One Academic (New) ProQuest Central (Alumni) MEDLINE - Academic
DatabaseTitleList	MEDLINE - Academic ProQuest One Academic Middle East (New) MEDLINE
Database_xml	– sequence: 1 dbid: NPM name: PubMed url: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: BENPR name: ProQuest Central url: https://www.proquest.com/central sourceTypes: Aggregation Database
DeliveryMethod	fulltext_linktorsrc
Discipline	Medicine
EISSN	1432-1459
EndPage	1484
ExternalDocumentID	PMC8857164 34292398 10_1007_s00415_021_10712_5
Genre	Journal Article
GrantInformation_xml	– fundername: Università degli Studi di Napoli Federico II – fundername: Tom Wahlig Foundation grantid: 2020 – fundername: Ministero della Salute grantid: RF-2016-02361610 funderid: http://dx.doi.org/10.13039/501100003196 – fundername: PROSPAX grantid: 2020; 2020 – fundername: AISA grantid: 01.2019 – fundername: E-RARE-3 PREPARE grantid: 3398 – fundername: Ministero della Salute grantid: RF-2016-02361610 – fundername: PROSPAX grantid: 2020 – fundername: ; – fundername: ; grantid: 3398 – fundername: ; grantid: 01.2019 – fundername: ; grantid: 2020 – fundername: ; grantid: 2020; 2020 – fundername: ; grantid: RF-2016-02361610
GroupedDBID	--- -53 -5E -5G -BR -EM -Y2 -~C .55 .86 .GJ .VR 06C 06D 0R~ 0VY 199 1N0 2.D 203 28- 29L 29~ 2J2 2JN 2JY 2KG 2KM 2LR 2P1 2VQ 2~H 30V 36B 3SX 3V. 4.4 406 408 409 40D 40E 53G 5QI 5RE 5VS 67Z 6NX 78A 7X7 88E 8AO 8FI 8FJ 8UJ 95- 95. 95~ 96X AAAVM AABHQ AACDK AAHNG AAIAL AAJBT AAJKR AANXM AANZL AARHV AARTL AASML AATNV AATVU AAUYE AAWCG AAYIU AAYQN AAYTO AAYZH ABAKF ABBBX ABBXA ABDZT ABECU ABFTV ABHLI ABHQN ABIPD ABJNI ABJOX ABKCH ABKTR ABLJU ABMNI ABMQK ABNWP ABPLI ABQBU ABQSL ABSXP ABTEG ABTKH ABTMW ABULA ABUWG ABUWZ ABWNU ABXPI ACAOD ACBXY ACDTI ACGFS ACHSB ACHXU ACKNC ACMDZ ACMLO ACOKC ACOMO ACPIV ACPRK ACUDM ACZOJ ADBBV ADHIR ADIMF ADINQ ADKNI ADKPE ADRFC ADTPH ADURQ ADYFF ADZKW AEBTG AEFIE AEFQL AEGAL AEGNC AEJHL AEJRE AEKMD AEMSY AENEX AEOHA AEPYU AESKC AETLH AEVLU AEXYK AFBBN AFDYV AFEXP AFFNX AFJLC AFKRA AFLOW AFQWF AFWTZ AFZKB AGAYW AGDGC AGGDS AGJBK AGMZJ AGQEE AGQMX AGRTI AGVAE AGWIL AGWZB AGYKE AHAVH AHBYD AHIZS AHKAY AHMBA AHSBF AHYZX AIAKS AIGIU AIIXL AILAN AITGF AJBLW AJRNO AJZVZ AKMHD ALIPV ALMA_UNASSIGNED_HOLDINGS ALWAN AMKLP AMXSW AMYLF AOCGG ARMRJ AXYYD AZFZN B-. BA0 BBWZM BDATZ BENPR BGNMA BPHCQ BSONS BVXVI C6C CAG CCPQU COF CSCUP DDRTE DL5 DNIVK DPUIP DU5 EBD EBLON EBS EIOEI EJD EMB EMOBN EN4 EPAXT ESBYG F5P FEDTE FERAY FFXSO FIGPU FINBP FNLPD FRRFC FSGXE FWDCC FYUFA G-Y G-Z GGCAI GGRSB GJIRD GNWQR GQ6 GQ7 GQ8 GRRUI GXS H13 HF~ HG5 HG6 HMCUK HMJXF HQYDN HRMNR HVGLF HZ~ IHE IJ- IKXTQ IMOTQ ITM IWAJR IXC IZIGR IZQ I~X I~Z J-C J0Z JBSCW JCJTX JZLTJ KDC KOV KOW KPH LAS LLZTM M1P M4Y MA- N2Q N9A NB0 NDZJH NPVJJ NQJWS NU0 O9- O93 O9G O9I O9J OAM OVD P19 P2P P9S PF0 PQQKQ PROAC PSQYO PT4 PT5 Q2X QOK QOR QOS R89 R9I RHV RIG RNI RNS ROL RPX RRX RSV RZK S16 S1Z S26 S27 S28 S37 S3B SAP SCLPG SDE SDH SDM SHX SISQX SJYHP SMD SNE SNPRN SNX SOHCF SOJ SPISZ SRMVM SSLCW SSXJD STPWE SV3 SZ9 SZN T13 T16 TEORI TSG TSK TSV TT1 TUC U2A U9L UG4 UKHRP UOJIU UTJUX UZXMN VC2 VFIZW W23 W48 WJK WK6 WK8 X7M YLTOR Z45 Z7U Z81 Z82 Z83 Z87 Z8O Z8U Z8V Z8W Z91 Z92 ZGI ZMTXR ZOVNA ZXP ~EX ~KM AAPKM AAYXX ABBRH ABDBE ABFSG ABRTQ ACSTC ADHKG AEZWR AFDZB AFFHD AFHIU AFOHR AGQPQ AHPBZ AHWEU AIXLP ATHPR AYFIA CITATION PHGZM PHGZT PJZUB PPXIY CGR CUY CVF ECM EIF NPM 7TK 7XB 8FK K9. PKEHL PQEST PQUKI PRINS 7X8 PUEGO 5PM
ID	FETCH-LOGICAL-c474t-5cc3aa2e75f4e38bc29b3c41ef65fb4d014fe1c3a1a3308e159ea74b35805bb93
IEDL.DBID	7X7
ISICitedReferencesCount	6
ISICitedReferencesURI	http://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=Summon&SrcAuth=ProQuest&DestLinkType=CitingArticles&DestApp=WOS_CPL&KeyUT=000675768200002&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D
ISSN	0340-5354 1432-1459
IngestDate	Tue Nov 04 01:51:05 EST 2025 Thu Oct 02 11:20:52 EDT 2025 Wed Nov 05 04:11:58 EST 2025 Mon Jul 21 05:49:56 EDT 2025 Tue Nov 18 22:29:38 EST 2025 Sat Nov 29 02:48:36 EST 2025 Fri Feb 21 02:47:22 EST 2025
IsDoiOpenAccess	true
IsOpenAccess	true
IsPeerReviewed	true
IsScholarly	true
Issue	3
Keywords	NGS targeted resequencing panel Novel mutations Spinocerebellar ataxia type 14 Broadened phenotype PRKCG
Language	English
License	2021. The Author(s). Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
LinkModel	DirectLink
MergedId	FETCHMERGED-LOGICAL-c474t-5cc3aa2e75f4e38bc29b3c41ef65fb4d014fe1c3a1a3308e159ea74b35805bb93
Notes	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23
ORCID	0000-0002-9753-5575
OpenAccessLink	https://link.springer.com/10.1007/s00415-021-10712-5
PMID	34292398
PQID	2630419515
PQPubID	47196
PageCount	9
ParticipantIDs	pubmedcentral_primary_oai_pubmedcentral_nih_gov_8857164 proquest_miscellaneous_2554351149 proquest_journals_2630419515 pubmed_primary_34292398 crossref_citationtrail_10_1007_s00415_021_10712_5 crossref_primary_10_1007_s00415_021_10712_5 springer_journals_10_1007_s00415_021_10712_5
PublicationCentury	2000
PublicationDate	2022-03-01
PublicationDateYYYYMMDD	2022-03-01
PublicationDate_xml	– month: 03 year: 2022 text: 2022-03-01 day: 01
PublicationDecade	2020
PublicationPlace	Berlin/Heidelberg
PublicationPlace_xml	– name: Berlin/Heidelberg – name: Germany – name: Heidelberg
PublicationTitle	Journal of neurology
PublicationTitleAbbrev	J Neurol
PublicationTitleAlternate	J Neurol
PublicationYear	2022
Publisher	Springer Berlin Heidelberg Springer Nature B.V
Publisher_xml	– name: Springer Berlin Heidelberg – name: Springer Nature B.V
References	Chen, Kano, Abeliovich, Chen, Bao, Kim, Hashimoto, Thompson, Tonegawa (CR18) 1995; 83 Yabe, Sasaki, Chen, Raskind, Bird, Yamashita, Tsuji, Kikuchi, Tashiro (CR26) 2003; 60 Klebe, Durr, Rentschler, Hahn-Barma, Abele, Bouslam, Schöls, Jedynak, Forlani, Denis, Dussert, Agid, Bauer, Globas, Wüllner, Brice, Riess, Stevanin (CR1) 2005; 58 Shirafuji, Shimazaki, Miyagi, Ueyama, Adachi, Tanaka, Hide, Saito, Sakai (CR7) 2019; 98 Richards, Aziz, Bale, Bick, Das, Gastier-Foster, Grody, Hegde, Lyon, Spector, Voelkerding, Rehm, Laboratory Quality Assurance Committee (CR13) 2015; 17 Nolte, Landendinger, Schmitt, Müller (CR24) 2007; 22 Ronsin, Hannoun, Thobois, Petiot, Vighetto, Cotton, Tilikete (CR20) 2019; 110 Ji, Hassler, Shimobayashi, Paka, Streit, Kapfhammer (CR17) 2014; 70 Hewamadduma, Hoggard, O'Malley, Robinson, Beauchamp, Segamogaite, Martindale, Rodgers, Rao, Sarrigiannis, Shanmugarajah, Zis, Sharrack, McDermott, Shaw, Hadjivassiliou (CR21) 2018; 4 Verbeek, Warrenburg, Hennekam, Dooijes, Ippel, Verschuuren-Bemelmans, Kremer, Sinke (CR15) 2005; 117 Adachi, Kobayashi, Takahashi, Kawasaki, Shirai, Ueyama, Matsuda, Seki, Sakai, Saito (CR14) 2008; 283 Anheim, Fleury, Monga, Laugel, Chaigne, Rodier, Ginglinger, Boulay, Courtois, Drouot, Fritsch, Delaunoy, Stoppa-Lyonnet, Tranchant, Koenig (CR11) 2010; 11 Dalski, Mitulla, Bürk, Schattenfroh, Schwinger, Zühlke (CR27) 2006; 253 Dosi, Galatolo, Rubegni, Doccini, Pasquariello, Nesti, Sicca, Barghigiani, Battini, Tessa, Santorelli (CR8) 2020; 7 Stevanin, Hahn, Lohmann, Bouslam, Gouttard, Soumphonphakdy, Welter, Ollagnon-Roman, Lemainque, Ruberg, Brice, Durr (CR6) 2004; 61 Galatolo, Kuo, Mullen, Meyer-Schuman, Doccini, Battini, Lieto, Tessa, Filla, Francklyn, Antonellis, Santorelli (CR9) 2020; 41 Yamashita, Sasaki, Yabe, Fukazawa, Nogoshi, Komeichi, Takada, Shiraishi, Takiyama, Nishizawa, Kaneko, Tanaka, Tsuji, Tashiro (CR28) 2000; 48 Vlak, Sinke, Rabelink, Kremer, van de Warrenburg (CR25) 2006; 21 CR4 Schmitz-Hübsch, du Montcel, Baliko, Berciano, Boesch, Depondt, Giunti, Globas, Infante, Kang, Kremer, Mariotti, Melegh, Pandolfo, Rakowicz, Ribai, Rola, Schöls, Szymanski, van de Warrenburg, Dürr, Klockgether, Fancellu (CR10) 2006; 66 Chen, Brkanac, Verlinde, Tan, Bylenok, Nochlin, Matsushita, Lipe, Wolff, Fernandez, Cimino, Bird, Raskind (CR5) 2003; 72 CR23 Riso, Rossi, Perna, Nicoletti, Bosco, Zanni, Silvestri (CR12) 2020; 41 Cocozza, Pontillo, De Michele, Perillo, Guerriero, Ugga, Salvatore, Galatolo, Riso, Saccà, Quarantelli, Brunetti (CR22) 2020; 62 Koht, Stevanin, Durr, Mundwiller, Brice, Tallaksen (CR3) 2014; 125 Kano, Hashimoto, Chen, Abeliovich, Aiba, Kurihara, Watanabe, Inoue, Tonegawa (CR19) 1995; 83 Chelban, Wiethoff, Fabian-Jessing, Haridy, Khan, Efthymiou, Becker, O'Connor, Hersheson, Newland, Hojland, Gregersen, Lindquist, Petersen, Nielsen, Nielsen, Wood, Giunti, Houlden (CR2) 2018; 33 Wong, Hoekstra, Vowles, Watson, Fuller, Németh, Cowley, Ansorge, Talbot, Becker (CR16) 2018; 6 I Yamashita (10712_CR28) 2000; 48 N Adachi (10712_CR14) 2008; 283 T Shirafuji (10712_CR7) 2019; 98 D Galatolo (10712_CR9) 2020; 41 T Schmitz-Hübsch (10712_CR10) 2006; 66 V Riso (10712_CR12) 2020; 41 M Kano (10712_CR19) 1995; 83 10712_CR23 I Yabe (10712_CR26) 2003; 60 C Chen (10712_CR18) 1995; 83 S Richards (10712_CR13) 2015; 17 MH Vlak (10712_CR25) 2006; 21 G Stevanin (10712_CR6) 2004; 61 CA Hewamadduma (10712_CR21) 2018; 4 A Dalski (10712_CR27) 2006; 253 S Klebe (10712_CR1) 2005; 58 J Ji (10712_CR17) 2014; 70 D Nolte (10712_CR24) 2007; 22 M Anheim (10712_CR11) 2010; 11 10712_CR4 C Dosi (10712_CR8) 2020; 7 DS Verbeek (10712_CR15) 2005; 117 V Chelban (10712_CR2) 2018; 33 S Ronsin (10712_CR20) 2019; 110 DH Chen (10712_CR5) 2003; 72 J Koht (10712_CR3) 2014; 125 S Cocozza (10712_CR22) 2020; 62 MMK Wong (10712_CR16) 2018; 6
References_xml	– volume: 60 start-page: 1749 year: 2003 end-page: 1751 ident: CR26 article-title: Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma publication-title: Arch Neurol doi: 10.1001/archneur.60.12.1749 – volume: 98 start-page: 46 year: 2019 end-page: 53 ident: CR7 article-title: Spinocerebellar ataxia type 14 caused by a nonsense mutation in the PRKCG gene publication-title: Mol Cell Neurosci doi: 10.1016/j.mcn.2019.05.005 – volume: 253 start-page: 1111 year: 2006 end-page: 1112 ident: CR27 article-title: Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia publication-title: J Neurol doi: 10.1007/s00415-006-0209-9 – ident: CR4 – volume: 41 start-page: 1232 year: 2020 end-page: 1237 ident: CR9 article-title: Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome publication-title: Hum Mutat doi: 10.1002/humu.24024 – volume: 66 start-page: 1717 year: 2006 end-page: 1720 ident: CR10 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: 72 start-page: 839 year: 2003 end-page: 849 ident: CR5 article-title: Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia publication-title: Am J Hum Genet doi: 10.1086/373883 – volume: 17 start-page: 405 year: 2015 end-page: 424 ident: CR13 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: 6 start-page: 99 year: 2018 ident: CR16 article-title: Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation publication-title: Acta Neuropathol Commun doi: 10.1186/s40478-018-0600-7 – volume: 58 start-page: 720 year: 2005 end-page: 729 ident: CR1 article-title: New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14 publication-title: Ann Neurol doi: 10.1002/ana.20628 – volume: 11 start-page: 1 year: 2010 end-page: 12 ident: CR11 article-title: Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management publication-title: Neurogenetics doi: 10.1007/s10048-009-0196-y – volume: 70 start-page: 1 year: 2014 end-page: 11 ident: CR17 article-title: Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14 publication-title: Neurobiol Dis doi: 10.1016/j.nbd.2014.06.002 – ident: CR23 – volume: 61 start-page: 1242 year: 2004 end-page: 1248 ident: CR6 article-title: Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14 publication-title: Arch Neurol doi: 10.1001/archneur.61.8.1242 – volume: 283 start-page: 19854 year: 2008 end-page: 19863 ident: CR14 article-title: Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis publication-title: J Biol Chem doi: 10.1074/jbc.M801492200 – volume: 4 year: 2018 ident: CR21 article-title: Novel genotype-phenotype and MRI correlations in a large cohort of patients with mutations publication-title: Neurol Genet doi: 10.1212/NXG.0000000000000279 – volume: 41 start-page: 2989 year: 2020 end-page: 2991 ident: CR12 article-title: NGS-based detection of a novel mutation in PRKCG (SCA14) in sporadic adult-onset ataxia plus dystonic tremor publication-title: Neurol Sci doi: 10.1007/s10072-020-04443-0 – volume: 110 start-page: 187 year: 2019 end-page: 192 ident: CR20 article-title: A new MRI marker of ataxia with oculomotor apraxia publication-title: Eur J Radiol doi: 10.1016/j.ejrad.2018.11.035 – volume: 117 start-page: 88 year: 2005 end-page: 91 ident: CR15 article-title: Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population publication-title: Hum Genet doi: 10.1007/s00439-005-1278-z – volume: 83 start-page: 1233 year: 1995 end-page: 1242 ident: CR18 article-title: Impaired motor coordination correlates with persistent multiple climbing fiber innervation in PKC gamma mutant mice publication-title: Cell doi: 10.1016/0092-8674(95)90148-5 – volume: 21 start-page: 1025 year: 2006 end-page: 1028 ident: CR25 article-title: Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype publication-title: Mov Disord doi: 10.1002/mds.20851 – volume: 33 start-page: 1119 year: 2018 end-page: 1129 ident: CR2 article-title: Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14 publication-title: Mov Disord doi: 10.1002/mds.27334 – volume: 22 start-page: 265 year: 2007 end-page: 267 ident: CR24 article-title: Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family publication-title: Mov Disord doi: 10.1002/mds.21269 – volume: 7 start-page: 595 year: 2020 end-page: 601 ident: CR8 article-title: Expanding the clinical and genetic heterogeneity of SPAX5 publication-title: Ann Clin Transl Neurol doi: 10.1002/acn3.51024 – volume: 62 start-page: 1095 year: 2020 end-page: 1103 ident: CR22 article-title: The "crab sign": an imaging feature of spinocerebellar ataxia type 48 publication-title: Neuroradiology doi: 10.1007/s00234-020-02427-7 – volume: 125 start-page: 116 year: 2014 end-page: 122 ident: CR3 article-title: SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene publication-title: Acta Neurol Scand doi: 10.1111/j.1600-0404.2011.01504.x – volume: 83 start-page: 1223 year: 1995 end-page: 1231 ident: CR19 article-title: Impaired synapse elimination during cerebellar development in PKC gamma mutant mice publication-title: Cell doi: 10.1016/0092-8674(95)90147-7 – volume: 48 start-page: 156 year: 2000 end-page: 163 ident: CR28 article-title: A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter publication-title: Ann Neurol doi: 10.1002/1531-8249(200008)48:2<156::aid-ana4>3.0.co;2-9 – volume: 48 start-page: 156 year: 2000 ident: 10712_CR28 publication-title: Ann Neurol doi: 10.1002/1531-8249(200008)48:2<156::aid-ana4>3.0.co;2-9 – volume: 33 start-page: 1119 year: 2018 ident: 10712_CR2 publication-title: Mov Disord doi: 10.1002/mds.27334 – volume: 66 start-page: 1717 year: 2006 ident: 10712_CR10 publication-title: Neurology doi: 10.1212/01.wnl.0000219042.60538.92 – volume: 21 start-page: 1025 year: 2006 ident: 10712_CR25 publication-title: Mov Disord doi: 10.1002/mds.20851 – volume: 98 start-page: 46 year: 2019 ident: 10712_CR7 publication-title: Mol Cell Neurosci doi: 10.1016/j.mcn.2019.05.005 – volume: 11 start-page: 1 year: 2010 ident: 10712_CR11 publication-title: Neurogenetics doi: 10.1007/s10048-009-0196-y – volume: 117 start-page: 88 year: 2005 ident: 10712_CR15 publication-title: Hum Genet doi: 10.1007/s00439-005-1278-z – volume: 83 start-page: 1233 year: 1995 ident: 10712_CR18 publication-title: Cell doi: 10.1016/0092-8674(95)90148-5 – volume: 22 start-page: 265 year: 2007 ident: 10712_CR24 publication-title: Mov Disord doi: 10.1002/mds.21269 – volume: 60 start-page: 1749 year: 2003 ident: 10712_CR26 publication-title: Arch Neurol doi: 10.1001/archneur.60.12.1749 – volume: 4 year: 2018 ident: 10712_CR21 publication-title: Neurol Genet doi: 10.1212/NXG.0000000000000279 – volume: 125 start-page: 116 year: 2014 ident: 10712_CR3 publication-title: Acta Neurol Scand doi: 10.1111/j.1600-0404.2011.01504.x – volume: 110 start-page: 187 year: 2019 ident: 10712_CR20 publication-title: Eur J Radiol doi: 10.1016/j.ejrad.2018.11.035 – volume: 72 start-page: 839 year: 2003 ident: 10712_CR5 publication-title: Am J Hum Genet doi: 10.1086/373883 – volume: 41 start-page: 1232 year: 2020 ident: 10712_CR9 publication-title: Hum Mutat doi: 10.1002/humu.24024 – volume: 70 start-page: 1 year: 2014 ident: 10712_CR17 publication-title: Neurobiol Dis doi: 10.1016/j.nbd.2014.06.002 – volume: 83 start-page: 1223 year: 1995 ident: 10712_CR19 publication-title: Cell doi: 10.1016/0092-8674(95)90147-7 – volume: 61 start-page: 1242 year: 2004 ident: 10712_CR6 publication-title: Arch Neurol doi: 10.1001/archneur.61.8.1242 – volume: 41 start-page: 2989 year: 2020 ident: 10712_CR12 publication-title: Neurol Sci doi: 10.1007/s10072-020-04443-0 – volume: 7 start-page: 595 year: 2020 ident: 10712_CR8 publication-title: Ann Clin Transl Neurol doi: 10.1002/acn3.51024 – volume: 253 start-page: 1111 year: 2006 ident: 10712_CR27 publication-title: J Neurol doi: 10.1007/s00415-006-0209-9 – ident: 10712_CR23 – ident: 10712_CR4 – volume: 17 start-page: 405 year: 2015 ident: 10712_CR13 publication-title: Genet Med doi: 10.1038/gim.2015.30 – volume: 6 start-page: 99 year: 2018 ident: 10712_CR16 publication-title: Acta Neuropathol Commun doi: 10.1186/s40478-018-0600-7 – volume: 283 start-page: 19854 year: 2008 ident: 10712_CR14 publication-title: J Biol Chem doi: 10.1074/jbc.M801492200 – volume: 58 start-page: 720 year: 2005 ident: 10712_CR1 publication-title: Ann Neurol doi: 10.1002/ana.20628 – volume: 62 start-page: 1095 year: 2020 ident: 10712_CR22 publication-title: Neuroradiology doi: 10.1007/s00234-020-02427-7
SSID	ssj0008459
Score	2.4023046
Snippet	Introduction Spinocerebellar ataxia type 14 (SCA14) is a dominantly inherited neurological disorder characterized by slowly progressive cerebellar ataxia.... Spinocerebellar ataxia type 14 (SCA14) is a dominantly inherited neurological disorder characterized by slowly progressive cerebellar ataxia. SCA14 is caused... IntroductionSpinocerebellar ataxia type 14 (SCA14) is a dominantly inherited neurological disorder characterized by slowly progressive cerebellar ataxia. SCA14...
SourceID	pubmedcentral proquest pubmed crossref springer
SourceType	Open Access Repository Aggregation Database Index Database Enrichment Source Publisher
StartPage	1476
SubjectTerms	Ataxia Cerebellar ataxia Cerebellum Female Genotype & phenotype Hereditary spastic paraplegia Heterozygote Humans Kinases Medicine Medicine & Public Health Mutation Neurology Neuroradiology Neurosciences Next-generation sequencing Original Communication Patients Phenotype Phenotypes Protein kinase C Protein Kinase C - genetics Purkinje cells Spinocerebellar Ataxias - diagnosis Spinocerebellar Ataxias - genetics
SummonAdditionalLinks	– databaseName: SpringerLINK Contemporary 1997-Present dbid: RSV link: http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnR1db9QwLIIxIV4YDDYOBgrS3qDStXHblDeENvEAE4Ix7a1Kco5WaWtP7d20R346dq4tuw2QoG-tnbZxnNiJv4TYV2ZmtNU-Ugn6CABdZL1NI7De-IzGuTAhUPhTfnSkT0-LL31QWDd4uw8mybBSj8FunBqKo4nZBSvnDP53xT0Sd5oLNnz9djKuvxpCibSpgmmUqhT6UJnfv2NdHN3SMW-7St6wlwYxdLj1fx14JB72aqd8v-KTx-IO1tvi_ufesP5E_DiYV11Dd9IszFVlpKlnkoQmtiiJB4n8tHpI9gdr-NCWnsluXtUk_Fpk04Vph4YBHMM7iVe00PBZnGy8JDXzWmt-ed1c4rm8WK5cAbqn4vvhwfGHj1FfnCFykMMiSp1TxiSYpx5QaeuSwioHMfos9RZmtPXyGBNObJSaaiS1CU0Ols2uqbWF2hEbdVPjMyG1pUuBjR0YsIQG4Lw1GfgMDWloExEPY1S6PnM5F9A4L8ecy4G0JZG2DKQtqc2bsc18lbfjr9h7w9CX_RzuyiRThEcaKIFfj2CafWxSMTU2S8IhbYxNsVBMxO6KU8bPKa4Epgo9EfkaD40InNl7HVJXZyHDt9Yp72Mn4u3ASb9-68-9eP5v6C_Eg4RjOYJD3Z7YWLRLfCk23eWi6tpXYU79BI5dHw0 priority: 102 providerName: Springer Nature
Title	Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations
URI	https://link.springer.com/article/10.1007/s00415-021-10712-5 https://www.ncbi.nlm.nih.gov/pubmed/34292398 https://www.proquest.com/docview/2630419515 https://www.proquest.com/docview/2554351149 https://pubmed.ncbi.nlm.nih.gov/PMC8857164
Volume	269
WOSCitedRecordID	wos000675768200002&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D
hasFullText	1
inHoldings	1
isFullTextHit
isPrint
journalDatabaseRights	– providerCode: PRVAVX databaseName: SpringerLINK Contemporary 1997-Present customDbUrl: eissn: 1432-1459 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0008459 issn: 0340-5354 databaseCode: RSV dateStart: 19970101 isFulltext: true titleUrlDefault: https://link.springer.com/search?facet-content-type=%22Journal%22 providerName: Springer Nature
link	http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwpR3LbtQw0IIWoV54PwKlMhI3iNjE48ThggBtxQFWVXlob5HttUWkkmyT3apHPp0Zb5KyVPRCDpEczySxZmyP58nYC6EXWhnlY5E6HwM4GxtvZAzGa58hnQsdAoU_5bOZms-Lo17h1vVulcOaGBbqRWNJR_46zfDgnaA8IN8uT2OqGkXW1b6ExnW2S2Wzic_z-XjgmigIxdImAiaxFBL6oJkQOkeJpig2mRy6cqoHsL0xXZI2LztN_mU5DRvS4e3_HcoddqsXRfm7De_cZddcfY_d_Nwb2--zX9Nl1TXY4nqlzyvNdb3guJG61nHkSyQJriicfMQaUuTiM94tqxo3xNaROUO3A2LoTuANd-e4-JB-jjeeo-j5Bza9vG7O3An_ud64B3QP2LfD6dcPH-O-YENsIYdVLK0VWqculx6cUMamhREWEucz6Q0s8DjmXYIwiRZiohyKUk7nYMgUK40pxEO2Uze1e8y4MngJMIkFDQbBAKw3OgOfOY1SW8SSgVql7bOZU1GNk3LMwxwoXCKFy0DhEnFejjjLTS6PK6H3B-qV_bzuygvSRez52I0zkswsunbNGmFQQiPzLBQRe7ThmfFzgqqDiUJFLN_iphGAsn1v99TVj5D1WylJZ9uIvRr47uK3_j2KJ1eP4inbSymeIzjV7bOdVbt2z9gNe7aquvYgzKZwVwds9_10dnSMreMv338DezQsuA
linkProvider	ProQuest
linkToHtml	http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMw1V1Lb9QwELaqgoALb2iggJHgBFE38eSFhBCCVq26XXEo0t6C7bVFpDZZkt1SbvwifiMzzqMsFb31QG6Jx0mcfB7PeF6MvRByJlOVWl-ExvoARvvKqsgHZaWN8T9n0gUKj5PJJJ1Os09r7FcfC0NulT1PdIx6VmnaI98KY1S8A5QHonfzbz5VjSLral9Co4XFvvnxHVW25u3eR_y_L8NwZ_vww67fVRXwNSSw8COthZShSSILRqRKh5kSGgJj48gqmKHOYE2ANIFEXT81uN4bmYAie2GkFCVfQpZ_Bfl4QspeMh0UvFEKrjjbSMDIj0QEXZCOC9WjxFYUC00OZAnVH1hdCM9Jt-edNP-y1LoFcOfW__bpbrObnajN37dz4w5bM-Vddu2gcya4x35uz4umwjMuF_K0kFyWM46CgqkNx3mHkEOOyckHrqKNarzGm3lR4oJfGzLXyLrv6JoDeMPNKTJX2n_kleUoWv_Rm25eVifmiB8vW_eH5j77fCnjf8DWy6o0G4ynCg8BKtAgQSEZgLZKxmBjI1Eq9VjQoyPXXbZ2KhpylA95ph2ickRU7hCVY59XQ595m6vkQurNHi15x7ea_AwqHns-NCPHITOSLE21RBqUQMn8DJnHHrYYHR4nqPqZyFKPJSvoHQgom_lqS1l8dVnN0zQi3d1jr3ucn73Wv0fx6OJRPGPXdw8Pxvl4b7L_mN0IKXbFORBusvVFvTRP2FV9siia-qmbyZx9uWz8_way3oc5
linkToPdf	http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMw1V1Lb9QwEB5VW1RxKW8IFDASnCBqk0xeSAgB3RVVy2qFQOot2F5brNQmS7Jbyo3fxa9jJq-yVPTWA7klHidx8nk843kBPA3kVCYqsW7gG-siGu0qq0IXlZU2ov-cyjpQ-CAej5PDw3SyBr-6WBh2q-x4Ys2op4XmPfJtPyLF2yN5INy2rVvEZHf0ev7N5QpSbGntymk0ENk3P76T-la92tulf_3M90fDT-_eu22FAVdjjAs31DqQ0jdxaNEEidJ-qgKNnrFRaBVOSX-wxiMaT5Lenxha-42MUbHtMFSKEzER-1-PScjAAay_HY4nH_t1IMG6VNtOgDtuGITYhuzUgXuc5oojo9mdLOZqBKvL4jlZ97zL5l9223o5HF37nz_kddhshXDxppk1N2DN5Ddh40PrZnALfg7ns6qgMyEX8nQmhcyngkQIUxpBM5LASLxUsHdcwVvYdE1U81lOokBp2JAjy65j3ezhS2FOie3yzqQorCCh-4_efPO8ODFH4njZOEZUt-HzpYz_DgzyIjf3QCSKjgCVp1GiIjJEbZWM0EZGkrzqgNchJdNtHncuJ3KU9Rmoa3RlhK6sRldGfZ73feZNFpMLqbc65GQtR6uyM9g48KRvJl7EBiaZm2JJNCSbsmEaUwfuNnjtHxdwXbQgTRyIV5DcE3Ce89WWfPa1zneeJCFr9Q686DB_9lr_HsX9i0fxGDYI9tnB3nj_AVz1Oail9izcgsGiXJqHcEWfLGZV-aid1gK-XPYE-A2QwJFZ
openUrl	ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Episodic+ataxia+and+severe+infantile+phenotype+in+spinocerebellar+ataxia+type+14%3A+expansion+of+the+phenotype+and+novel+mutations&rft.jtitle=Journal+of+neurology&rft.au=De+Michele%2C+Giovanna&rft.au=Galatolo%2C+Daniele&rft.au=Galosi%2C+Serena&rft.au=Mignarri%2C+Andrea&rft.date=2022-03-01&rft.pub=Springer+Berlin+Heidelberg&rft.issn=0340-5354&rft.eissn=1432-1459&rft.volume=269&rft.issue=3&rft.spage=1476&rft.epage=1484&rft_id=info:doi/10.1007%2Fs00415-021-10712-5&rft_id=info%3Apmid%2F34292398&rft.externalDocID=PMC8857164
thumbnail_l	http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0340-5354&client=summon
thumbnail_m	http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0340-5354&client=summon
thumbnail_s	http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0340-5354&client=summon