MovDisordV3, Main, Curation, bibRecord, 002B65

Spinocerebellar ataxia 14: Novel mutation in exon 2 of PRKCG in a German family

Identifieur interne : 002B65 ( Main/Curation ); précédent : 002B64; suivant : 002B66

Spinocerebellar ataxia 14: Novel mutation in exon 2 of PRKCG in a German family

Auteurs : Dagmar Nolte [Allemagne] ; Melanie Landendinger [Allemagne] ; Eberhard Schmitt [Allemagne] ; Ulrich Müller [Allemagne]

Source :

Movement Disorders [ 0885-3185 ] ; 2007-01-15.

RBID : ISTEX:36593247DB6D13D70DEA3212EB42F8C1D8A6BA1C

Descripteurs français

Pascal (Inist)
- Allemand, Ataxie spinocérébelleuse, Exon, Mutation, Protein kinase C, Système nerveux pathologie.
Wicri :
- geographic : Allemagne.

English descriptors

KwdEn :
- DNA Mutational Analysis, Exon, Exons (genetics), German, Germany, Humans, Male, Middle Aged, Mutation, Nervous system diseases, PRKCG, Pedigree, Point Mutation (genetics), Protein Kinase C (genetics), Protein kinase C, Rare Diseases, SCA14, Signal Transduction, Spinocerebellar Ataxias (classification), Spinocerebellar Ataxias (genetics), Spinocerebellar ataxia, protein kinase C, spinocerebellar ataxia.
MESH :
- chemical , genetics : Protein Kinase C.
- geographic : Germany.
- classification : Spinocerebellar Ataxias.
- genetics : Exons, Point Mutation, Spinocerebellar Ataxias.
- DNA Mutational Analysis, Humans, Male, Middle Aged, Pedigree, Rare Diseases, Signal Transduction.

Abstract

We describe a novel mutation in the gene coding for protein kinase C gamma (PRKCG) in patients of a German family affected with slowly progressive gait ataxia, dysarthria, and nystagmus. The G/T missense mutation occurred in exon 2 of PRKCG and results in a substitution of glycine by valine (G63V) in the evolutionarily highly conserved cysteine‐rich region 1/C1 domain of PRKCG. Among the 20 mutations described to date, this is the first mutation located in exon 2 of PRKCG. © 2006 Movement Disorder Society

Url:

https://api.istex.fr/document/36593247DB6D13D70DEA3212EB42F8C1D8A6BA1C/fulltext/pdf

DOI: 10.1002/mds.21269

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Le document en format XML

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<author><name sortKey="Landendinger, Melanie" sort="Landendinger, Melanie" uniqKey="Landendinger M" first="Melanie" last="Landendinger">Melanie Landendinger</name>
<affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Justus‐Liebig Universität Giessen</wicri:regionArea>
<wicri:noRegion>Justus‐Liebig Universität Giessen</wicri:noRegion>
<wicri:noRegion>Justus‐Liebig Universität Giessen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schmitt, Eberhard" sort="Schmitt, Eberhard" uniqKey="Schmitt E" first="Eberhard" last="Schmitt">Eberhard Schmitt</name>
<affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Neurologische Klinik, Klinikum Marienhof, Koblenz</wicri:regionArea>
<wicri:noRegion>Koblenz</wicri:noRegion>
<wicri:noRegion>Koblenz</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name>
<affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Justus‐Liebig Universität Giessen</wicri:regionArea>
<wicri:noRegion>Justus‐Liebig Universität Giessen</wicri:noRegion>
<wicri:noRegion>Justus‐Liebig Universität Giessen</wicri:noRegion>
</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="2007-01-15">2007-01-15</date>
<biblScope unit="vol">22</biblScope>
<biblScope unit="issue">2</biblScope>
<biblScope unit="page" from="265">265</biblScope>
<biblScope unit="page" to="267">267</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">36593247DB6D13D70DEA3212EB42F8C1D8A6BA1C</idno>
<idno type="DOI">10.1002/mds.21269</idno>
<idno type="ArticleID">MDS21269</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DNA Mutational Analysis</term>
<term>Exons (genetics)</term>
<term>Germany</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>PRKCG</term>
<term>Pedigree</term>
<term>Point Mutation (genetics)</term>
<term>Protein Kinase C (genetics)</term>
<term>Rare Diseases</term>
<term>SCA14</term>
<term>Signal Transduction</term>
<term>Spinocerebellar Ataxias (classification)</term>
<term>Spinocerebellar Ataxias (genetics)</term>
<term>protein kinase C</term>
<term>spinocerebellar ataxia</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein Kinase C</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Germany</term>
</keywords>
<keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Spinocerebellar Ataxias</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term>
<term>Point Mutation</term>
<term>Spinocerebellar Ataxias</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Pedigree</term>
<term>Rare Diseases</term>
<term>Signal Transduction</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Allemagne</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">We describe a novel mutation in the gene coding for protein kinase C gamma (PRKCG) in patients of a German family affected with slowly progressive gait ataxia, dysarthria, and nystagmus. The G/T missense mutation occurred in exon 2 of PRKCG and results in a substitution of glycine by valine (G63V) in the evolutionarily highly conserved cysteine‐rich region 1/C1 domain of PRKCG. Among the 20 mutations described to date, this is the first mutation located in exon 2 of PRKCG. © 2006 Movement Disorder Society</div>
</front>
</TEI>
</ISTEX>
</double>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Spinocerebellar ataxia 14: Novel mutation in exon 2 of PRKCG in a German family

Spinocerebellar ataxia 14: Novel mutation in exon 2 of PRKCG in a German family

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