Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: Expanding the phenotype
Identifieur interne : 003350 ( Istex/Curation ); précédent : 003349; suivant : 003351Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: Expanding the phenotype
Auteurs : Monique H. M. Vlak [Pays-Bas] ; Richard J. Sinke [Pays-Bas] ; Gwenda M. Rabelink [Pays-Bas] ; Berry P. H. Kremer [Pays-Bas] ; Bart P. C. Van De Warrenburg [Pays-Bas]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-07.
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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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C." last="Van De Warrenburg">Bart P. C. Van De Warrenburg</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Radboud University Nijmegen Medical Center, Nijmegen</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2006-07">2006-07</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="1025">1025</biblScope><biblScope unit="page" to="1028">1028</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">9F8D3C349B635FB5495CD43D9254E17BFA647740</idno><idno type="DOI">10.1002/mds.20851</idno><idno type="ArticleID">MDS20851</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>SCA14</term><term>cerebellar ataxia</term><term>protein kinase C</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml: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</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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