Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype.
Identifieur interne : 002C02 ( PubMed/Checkpoint ); précédent : 002C01; suivant : 002C03Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype.
Auteurs : Monique H M. Vlak [Pays-Bas] ; Richard J. Sinke ; Gwenda M. Rabelink ; Berry P H. Kremer ; Bart P C. Van De WarrenburgSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
Descripteurs français
- 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), Cerebellum (pathology), DNA Mutational Analysis, Exons, Female, Glutamic Acid (genetics), Humans, Isoenzymes (genetics), Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Missense, Myoclonus (diagnosis), Myoclonus (genetics), Netherlands, Pedigree, Phenotype, Protein Kinase C (genetics), Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (genetics), Tremor (diagnosis), Tremor (genetics), Valine (genetics).
- 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 PKCgamma. 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.
DOI: 10.1002/mds.20851
PubMed: 16547918
Affiliations:
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pubmed:16547918Le document en format XML
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<term>Basal Ganglia Diseases (diagnosis)</term>
<term>Basal Ganglia Diseases (genetics)</term>
<term>Cerebellum (pathology)</term>
<term>DNA Mutational Analysis</term>
<term>Exons</term>
<term>Female</term>
<term>Glutamic Acid (genetics)</term>
<term>Humans</term>
<term>Isoenzymes (genetics)</term>
<term>Magnetic Resonance Imaging</term>
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<term>Myoclonus (genetics)</term>
<term>Netherlands</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Protein Kinase C (genetics)</term>
<term>Spinocerebellar Ataxias (diagnosis)</term>
<term>Spinocerebellar Ataxias (genetics)</term>
<term>Tremor (diagnosis)</term>
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<term>Aged</term>
<term>Aged, 80 and over</term>
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<term>Exons</term>
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<term>Humans</term>
<term>Magnetic Resonance Imaging</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 PKCgamma. 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.</div>
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<Abstract><AbstractText>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 PKCgamma. 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.</AbstractText>
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