MovDisordV3, Main, Exploration, bibRecord, 001057

Mutations in Rare Ataxia Genes Are Uncommon Causes of Sporadic Cerebellar Ataxia

Identifieur interne : 001057 ( Main/Exploration ); précédent : 001056; suivant : 001058

Mutations in Rare Ataxia Genes Are Uncommon Causes of Sporadic Cerebellar Ataxia

Auteurs : Brent L. Fogel [États-Unis] ; JI YONG LEE [États-Unis] ; Jessica Lane [États-Unis] ; Amanda Wahnich [États-Unis] ; Sandy Chan [États-Unis] ; Alden Huang [États-Unis] ; Greg E. Osborn [États-Unis] ; Eric Klein [États-Unis] ; Catherine Mamah [États-Unis] ; Susan Perlman [États-Unis] ; Daniel H. Geschwind [États-Unis] ; Giovanni Coppola [États-Unis]

Source :

Movement disorders [ 0885-3185 ] ; 2012.

RBID : Pascal:12-0198685

Descripteurs français

Pascal (Inist)
- Pathologie du système nerveux, Mutation, Ataxie cérébelleuse, Sporadique, Nombre copie, Ataxie spinocérébelleuse.

English descriptors

KwdEn :
- Adult, Aged, Cerebellar Ataxia (genetics), Cerebellar ataxia, Copy number, Databases, Bibliographic (statistics & numerical data), Enkephalins (genetics), Female, Genetic Predisposition to Disease (genetics), Genetic Testing, Heat-Shock Proteins (genetics), Humans, Lamin Type B (genetics), Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Mutation (genetics), Nerve Tissue Proteins (genetics), Nervous system diseases, Nuclear Proteins (genetics), Phenotype, Protein Precursors (genetics), RNA Helicases (genetics), Spinocerebellar ataxia, Sporadic, Transglutaminases (genetics).
MESH :
- chemical , genetics : Enkephalins, Heat-Shock Proteins, Lamin Type B, Nerve Tissue Proteins, Nuclear Proteins, Protein Precursors, RNA Helicases, Transglutaminases.
- genetics : Cerebellar Ataxia, Genetic Predisposition to Disease, Mutation.
- statistics & numerical data : Databases, Bibliographic.
- Adult, Aged, Female, Genetic Testing, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Phenotype.

Abstract

Background: Sporadic-onset ataxia is common in a tertiary care setting but a significant percentage remains unidentified despite extensive evaluation. Rare genetic ataxias, reported only in specific populations or families, may contribute to a percentage of sporadic ataxia. Methods: Patients with adult-onset sporadic ataxia, who tested negative for common genetic ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, and/or Friedreich ataxia), were evaluated using a stratified screening approach for variants in 7 rare ataxia genes. Results: We screened patients for published mutations in SYNE1 (n = 80) and TGM6 (n = 118), copy number variations in LMNB1 (n = 40) and SETX (n = 11), sequence variants in SACS (n = 39) and PDYN (n = 119), and the pentanucleotide insertion of spinocerebellar ataxia type 31 (n = 101). Overall, we identified 1 patient with a LMNB1 duplication, 1 patient with a PDYN variant, and 1 compound SACS heterozygote, including a novel variant. Conclusions: The rare genetic ataxias examined here do not significantly contribute to sporadic cerebellar ataxia in our tertiary care population.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3323119

Affiliations:

Le document en format XML

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<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles</s1>
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<s3>USA</s3>
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<country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
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<author><name sortKey="Klein, Eric" sort="Klein, Eric" uniqKey="Klein E" first="Eric" last="Klein">Eric Klein</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles</s1>
<s2>Los Angeles, California</s2>
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<country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mamah, Catherine" sort="Mamah, Catherine" uniqKey="Mamah C" first="Catherine" last="Mamah">Catherine Mamah</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles</s1>
<s2>Los Angeles, California</s2>
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<author><name sortKey="Perlman, Susan" sort="Perlman, Susan" uniqKey="Perlman S" first="Susan" last="Perlman">Susan Perlman</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles</s1>
<s2>Los Angeles, California</s2>
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<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Geschwind, Daniel H" sort="Geschwind, Daniel H" uniqKey="Geschwind D" first="Daniel H." last="Geschwind">Daniel H. Geschwind</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles</s1>
<s2>Los Angeles, California</s2>
<s3>USA</s3>
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<country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Psychiatry, David Geffen School of Medicine, University of California at Los Angeles</s1>
<s2>Los Angeles, California</s2>
<s3>USA</s3>
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<sZ>12 aut.</sZ>
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<country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles</s1>
<s2>Los Angeles, California</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Coppola, Giovanni" sort="Coppola, Giovanni" uniqKey="Coppola G" first="Giovanni" last="Coppola">Giovanni Coppola</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles</s1>
<s2>Los Angeles, California</s2>
<s3>USA</s3>
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<country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Psychiatry, David Geffen School of Medicine, University of California at Los Angeles</s1>
<s2>Los Angeles, California</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
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<country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2012">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Cerebellar Ataxia (genetics)</term>
<term>Cerebellar ataxia</term>
<term>Copy number</term>
<term>Databases, Bibliographic (statistics & numerical data)</term>
<term>Enkephalins (genetics)</term>
<term>Female</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Genetic Testing</term>
<term>Heat-Shock Proteins (genetics)</term>
<term>Humans</term>
<term>Lamin Type B (genetics)</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Mutation (genetics)</term>
<term>Nerve Tissue Proteins (genetics)</term>
<term>Nervous system diseases</term>
<term>Nuclear Proteins (genetics)</term>
<term>Phenotype</term>
<term>Protein Precursors (genetics)</term>
<term>RNA Helicases (genetics)</term>
<term>Spinocerebellar ataxia</term>
<term>Sporadic</term>
<term>Transglutaminases (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Enkephalins</term>
<term>Heat-Shock Proteins</term>
<term>Lamin Type B</term>
<term>Nerve Tissue Proteins</term>
<term>Nuclear Proteins</term>
<term>Protein Precursors</term>
<term>RNA Helicases</term>
<term>Transglutaminases</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cerebellar Ataxia</term>
<term>Genetic Predisposition to Disease</term>
<term>Mutation</term>
</keywords>
<keywords scheme="MESH" qualifier="statistics & numerical data" xml:lang="en"><term>Databases, Bibliographic</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Female</term>
<term>Genetic Testing</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Pathologie du   système nerveux</term>
<term>Mutation</term>
<term>Ataxie cérébelleuse</term>
<term>Sporadique</term>
<term>Nombre copie</term>
<term>Ataxie spinocérébelleuse</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Background: Sporadic-onset ataxia is common in a tertiary care setting but a significant percentage remains unidentified despite extensive evaluation. Rare genetic ataxias, reported only in specific populations or families, may contribute to a percentage of sporadic ataxia. Methods: Patients with adult-onset sporadic ataxia, who tested negative for common genetic ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, and/or Friedreich ataxia), were evaluated using a stratified screening approach for variants in 7 rare ataxia genes. Results: We screened patients for published mutations in SYNE1 (n = 80) and TGM6 (n = 118), copy number variations in LMNB1 (n = 40) and SETX (n = 11), sequence variants in SACS (n = 39) and PDYN (n = 119), and the pentanucleotide insertion of spinocerebellar ataxia type 31 (n = 101). Overall, we identified 1 patient with a LMNB1 duplication, 1 patient with a PDYN variant, and 1 compound SACS heterozygote, including a novel variant. Conclusions: The rare genetic ataxias examined here do not significantly contribute to sporadic cerebellar ataxia in our tertiary care population.</div>
</front>
</TEI>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Californie</li>
</region>
</list>
<tree><country name="États-Unis"><region name="Californie"><name sortKey="Fogel, Brent L" sort="Fogel, Brent L" uniqKey="Fogel B" first="Brent L." last="Fogel">Brent L. Fogel</name>
</region>
<name sortKey="Chan, Sandy" sort="Chan, Sandy" uniqKey="Chan S" first="Sandy" last="Chan">Sandy Chan</name>
<name sortKey="Coppola, Giovanni" sort="Coppola, Giovanni" uniqKey="Coppola G" first="Giovanni" last="Coppola">Giovanni Coppola</name>
<name sortKey="Coppola, Giovanni" sort="Coppola, Giovanni" uniqKey="Coppola G" first="Giovanni" last="Coppola">Giovanni Coppola</name>
<name sortKey="Geschwind, Daniel H" sort="Geschwind, Daniel H" uniqKey="Geschwind D" first="Daniel H." last="Geschwind">Daniel H. Geschwind</name>
<name sortKey="Geschwind, Daniel H" sort="Geschwind, Daniel H" uniqKey="Geschwind D" first="Daniel H." last="Geschwind">Daniel H. Geschwind</name>
<name sortKey="Geschwind, Daniel H" sort="Geschwind, Daniel H" uniqKey="Geschwind D" first="Daniel H." last="Geschwind">Daniel H. Geschwind</name>
<name sortKey="Huang, Alden" sort="Huang, Alden" uniqKey="Huang A" first="Alden" last="Huang">Alden Huang</name>
<name sortKey="Ji Yong Lee" sort="Ji Yong Lee" uniqKey="Ji Yong Lee" last="Ji Yong Lee">JI YONG LEE</name>
<name sortKey="Klein, Eric" sort="Klein, Eric" uniqKey="Klein E" first="Eric" last="Klein">Eric Klein</name>
<name sortKey="Lane, Jessica" sort="Lane, Jessica" uniqKey="Lane J" first="Jessica" last="Lane">Jessica Lane</name>
<name sortKey="Mamah, Catherine" sort="Mamah, Catherine" uniqKey="Mamah C" first="Catherine" last="Mamah">Catherine Mamah</name>
<name sortKey="Osborn, Greg E" sort="Osborn, Greg E" uniqKey="Osborn G" first="Greg E." last="Osborn">Greg E. Osborn</name>
<name sortKey="Perlman, Susan" sort="Perlman, Susan" uniqKey="Perlman S" first="Susan" last="Perlman">Susan Perlman</name>
<name sortKey="Wahnich, Amanda" sort="Wahnich, Amanda" uniqKey="Wahnich A" first="Amanda" last="Wahnich">Amanda Wahnich</name>
</country>
</tree>
</affiliations>
</record>

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Movement Disorders (revue)

Mutations in Rare Ataxia Genes Are Uncommon Causes of Sporadic Cerebellar Ataxia

Mutations in Rare Ataxia Genes Are Uncommon Causes of Sporadic Cerebellar Ataxia

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	Movement Disorders (revue)
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