Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype.
Identifieur interne : 001609 ( Ncbi/Checkpoint ); précédent : 001608; suivant : 001610Novel 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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Sinke</name></author><author><name sortKey="Rabelink, Gwenda M" sort="Rabelink, Gwenda M" uniqKey="Rabelink G" first="Gwenda M" last="Rabelink">Gwenda M. Rabelink</name></author><author><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></author><author><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></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="doi">10.1002/mds.20851</idno><idno type="RBID">pubmed:16547918</idno><idno type="pmid">16547918</idno><idno type="wicri:Area/PubMed/Corpus">002D22</idno><idno type="wicri:Area/PubMed/Curation">002D22</idno><idno type="wicri:Area/PubMed/Checkpoint">002C02</idno><idno type="wicri:Area/Ncbi/Merge">001609</idno><idno type="wicri:Area/Ncbi/Curation">001609</idno><idno type="wicri:Area/Ncbi/Checkpoint">001609</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype.</title><author><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><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, University Medical Center Utrecht, Utrecht</wicri:regionArea><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></affiliation></author><author><name sortKey="Sinke, Richard J" sort="Sinke, Richard J" uniqKey="Sinke R" first="Richard J" last="Sinke">Richard J. Sinke</name></author><author><name sortKey="Rabelink, Gwenda M" sort="Rabelink, Gwenda M" uniqKey="Rabelink G" first="Gwenda M" last="Rabelink">Gwenda M. Rabelink</name></author><author><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></author><author><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></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><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>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><term>Male</term><term>Middle Aged</term><term>Mutation, Missense</term><term>Myoclonus (diagnosis)</term><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><term>Tremor (genetics)</term><term>Valine (genetics)</term></keywords><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></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Netherlands</term></keywords><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="Wicri" type="geographic" xml:lang="fr"><term>Pays-Bas</term></keywords></textClass></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 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></front></TEI><affiliations><list><country><li>Pays-Bas</li></country><region><li>Utrecht (province)</li></region><settlement><li>Utrecht</li></settlement></list><tree><noCountry><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></noCountry><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></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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