MovDisordV3, Main, Exploration, bibRecord, 003309

Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: Expanding the phenotype

Identifieur interne : 003309 ( Main/Exploration ); précédent : 003308; suivant : 003310

Novel 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.

RBID : ISTEX:9F8D3C349B635FB5495CD43D9254E17BFA647740

Descripteurs français

Pascal (Inist)
- Ataxie cérébelleuse, Ataxie spinocérébelleuse, Mutation, Néerlandais, Phénotype, Protein kinase C, Système nerveux pathologie.
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:

https://api.istex.fr/document/9F8D3C349B635FB5495CD43D9254E17BFA647740/fulltext/pdf

DOI: 10.1002/mds.20851

Affiliations:

Le document en format XML

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<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>
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<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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<term>Isoenzymes</term>
<term>Protein Kinase C</term>
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<term>Spinocerebellar Ataxias</term>
<term>Tremor</term>
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<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>
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<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>
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Movement Disorders (revue)

Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: Expanding the phenotype

Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: Expanding the phenotype

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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