Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: Expanding the phenotype
Identifieur interne : 003350 ( Istex/Corpus ); précédent : 003349; suivant : 003351Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: Expanding the phenotype
Auteurs : Monique H. M. Vlak ; Richard J. Sinke ; Gwenda M. Rabelink ; Berry P. H. Kremer ; Bart P. C. Van De WarrenburgSource :
- Movement Disorders [ 0885-3185 ] ; 2006-07.
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- KwdEn :
Abstract
We report on a family with an autosomal dominant cerebellar ataxia in which we identified a novel mutation in exon 5 of the PRKCG/SCA14 gene that results in a Val138Glu substitution in the encoded protein PKCγ. While most affected subjects displayed a late‐onset uncomplicated form of spinocerebellar ataxia with occasional mild extrapyramidal features (such as postural tremor), one patient presented with a very mild nonprogressive ataxia since the age of 3 years and predominant multifocal myoclonus. © 2006 Movement Disorder Society
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DOI: 10.1002/mds.20851
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<originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<place><placeTerm type="text">Hoboken</placeTerm>
</place>
<dateIssued encoding="w3cdtf">2006-07</dateIssued>
<dateCaptured encoding="w3cdtf">2005-05-31</dateCaptured>
<dateValid encoding="w3cdtf">2005-10-05</dateValid>
<copyrightDate encoding="w3cdtf">2006</copyrightDate>
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<language><languageTerm type="code" authority="rfc3066">en</languageTerm>
<languageTerm type="code" authority="iso639-2b">eng</languageTerm>
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<extent unit="figures">1</extent>
<extent unit="tables">1</extent>
<extent unit="references">9</extent>
<extent unit="words">1795</extent>
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<abstract lang="en">We report on a family with an autosomal dominant cerebellar ataxia in which we identified a novel mutation in exon 5 of the PRKCG/SCA14 gene that results in a Val138Glu substitution in the encoded protein PKCγ. While most affected subjects displayed a late‐onset uncomplicated form of spinocerebellar ataxia with occasional mild extrapyramidal features (such as postural tremor), one patient presented with a very mild nonprogressive ataxia since the age of 3 years and predominant multifocal myoclonus. © 2006 Movement Disorder Society</abstract>
<subject lang="en"><genre>Keywords</genre>
<topic>cerebellar ataxia</topic>
<topic>SCA14</topic>
<topic>protein kinase C</topic>
</subject>
<relatedItem type="host"><titleInfo><title>Movement Disorders</title>
<subTitle>Official Journal of the Movement Disorder Society</subTitle>
</titleInfo>
<titleInfo type="abbreviated"><title>Mov. Disord.</title>
</titleInfo>
<subject><genre>article category</genre>
<topic>Brief Report</topic>
</subject>
<identifier type="ISSN">0885-3185</identifier>
<identifier type="eISSN">1531-8257</identifier>
<identifier type="DOI">10.1002/(ISSN)1531-8257</identifier>
<identifier type="PublisherID">MDS</identifier>
<part><date>2006</date>
<detail type="volume"><caption>vol.</caption>
<number>21</number>
</detail>
<detail type="issue"><caption>no.</caption>
<number>7</number>
</detail>
<extent unit="pages"><start>1025</start>
<end>1028</end>
<total>3</total>
</extent>
</part>
</relatedItem>
<identifier type="istex">9F8D3C349B635FB5495CD43D9254E17BFA647740</identifier>
<identifier type="DOI">10.1002/mds.20851</identifier>
<identifier type="ArticleID">MDS20851</identifier>
<accessCondition type="use and reproduction" contentType="copyright">Copyright © 2006 Movement Disorder Society</accessCondition>
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<recordContentSource>WILEY</recordContentSource>
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