Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: Expanding the phenotype
Identifieur interne : 003309 ( Main/Exploration ); précédent : 003308; suivant : 003310Novel 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.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : Pays-Bas.
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, Amino Acid Substitution (genetics), Atrophy, Basal Ganglia Diseases (diagnosis), Basal Ganglia Diseases (genetics), Cerebellar ataxia, Cerebellum (pathology), DNA Mutational Analysis, Dutch, Exons, Female, Glutamic Acid (genetics), Humans, Isoenzymes (genetics), Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Mutation, Missense, Myoclonus (diagnosis), Myoclonus (genetics), Nervous system diseases, Netherlands, Pedigree, Phenotype, Protein Kinase C (genetics), Protein kinase C, SCA14, Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (genetics), Spinocerebellar ataxia, Tremor (diagnosis), Tremor (genetics), Valine (genetics), cerebellar ataxia, protein kinase C.
- MESH :
- chemical , genetics : Glutamic Acid, Isoenzymes, Protein Kinase C, Valine.
- geographic : Netherlands.
- diagnosis : Basal Ganglia Diseases, Myoclonus, Spinocerebellar Ataxias, Tremor.
- genetics : Amino Acid Substitution, Basal Ganglia Diseases, Myoclonus, Spinocerebellar Ataxias, Tremor.
- pathology : Cerebellum.
- Adult, Aged, Aged, 80 and over, Atrophy, DNA Mutational Analysis, Exons, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Missense, Pedigree, Phenotype.
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
Url:
DOI: 10.1002/mds.20851
Affiliations:
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Le document en format XML
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Amino Acid Substitution (genetics)</term>
<term>Atrophy</term>
<term>Basal Ganglia Diseases (diagnosis)</term>
<term>Basal Ganglia Diseases (genetics)</term>
<term>Cerebellar ataxia</term>
<term>Cerebellum (pathology)</term>
<term>DNA Mutational Analysis</term>
<term>Dutch</term>
<term>Exons</term>
<term>Female</term>
<term>Glutamic Acid (genetics)</term>
<term>Humans</term>
<term>Isoenzymes (genetics)</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Mutation, Missense</term>
<term>Myoclonus (diagnosis)</term>
<term>Myoclonus (genetics)</term>
<term>Nervous system diseases</term>
<term>Netherlands</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Protein Kinase C (genetics)</term>
<term>Protein kinase C</term>
<term>SCA14</term>
<term>Spinocerebellar Ataxias (diagnosis)</term>
<term>Spinocerebellar Ataxias (genetics)</term>
<term>Spinocerebellar ataxia</term>
<term>Tremor (diagnosis)</term>
<term>Tremor (genetics)</term>
<term>Valine (genetics)</term>
<term>cerebellar ataxia</term>
<term>protein kinase C</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glutamic Acid</term>
<term>Isoenzymes</term>
<term>Protein Kinase C</term>
<term>Valine</term>
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<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Netherlands</term>
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<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Basal Ganglia Diseases</term>
<term>Myoclonus</term>
<term>Spinocerebellar Ataxias</term>
<term>Tremor</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Amino Acid Substitution</term>
<term>Basal Ganglia Diseases</term>
<term>Myoclonus</term>
<term>Spinocerebellar Ataxias</term>
<term>Tremor</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Cerebellum</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Atrophy</term>
<term>DNA Mutational Analysis</term>
<term>Exons</term>
<term>Female</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation, Missense</term>
<term>Pedigree</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Ataxie cérébelleuse</term>
<term>Ataxie spinocérébelleuse</term>
<term>Mutation</term>
<term>Néerlandais</term>
<term>Phénotype</term>
<term>Protein kinase C</term>
<term>Système nerveux pathologie</term>
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<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>
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<li>Utrecht (province)</li>
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<settlement><li>Nimègue</li>
<li>Utrecht</li>
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<tree><country name="Pays-Bas"><region name="Utrecht (province)"><name sortKey="Vlak, Monique H M" sort="Vlak, Monique H M" uniqKey="Vlak M" first="Monique H. M." last="Vlak">Monique H. M. Vlak</name>
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<name sortKey="Kremer, Berry P H" sort="Kremer, Berry P H" uniqKey="Kremer B" first="Berry P. H." last="Kremer">Berry P. H. Kremer</name>
<name sortKey="Rabelink, Gwenda M" sort="Rabelink, Gwenda M" uniqKey="Rabelink G" first="Gwenda M." last="Rabelink">Gwenda M. Rabelink</name>
<name sortKey="Sinke, Richard J" sort="Sinke, Richard J" uniqKey="Sinke R" first="Richard J." last="Sinke">Richard J. Sinke</name>
<name sortKey="Van De Warrenburg, Bart P C" sort="Van De Warrenburg, Bart P C" uniqKey="Van De Warrenburg B" first="Bart P. C." last="Van De Warrenburg">Bart P. C. Van De Warrenburg</name>
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