MovDisordV3, PubMed, Corpus, bibRecord, 001686

Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.

Identifieur interne : 001686 ( PubMed/Corpus ); précédent : 001685; suivant : 001687

Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.

Auteurs : Nutan Sharma ; Ramon A. Franco ; John K. Kuster ; Adele A. Mitchell ; Tania Fuchs ; Rachel Saunders-Pullman ; Deborah Raymond ; Mitchell F. Brin ; Andrew Blitzer ; Susan B. Bressman ; Laurie J. Ozelius

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.

RBID : pubmed:20669276

English descriptors

KwdEn :
- Adult, Aged, Dystonic Disorders (classification), Dystonic Disorders (genetics), Female, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Male, Middle Aged, Molecular Chaperones (genetics), Polymorphism, Single Nucleotide (genetics), Young Adult.
MESH :
- chemical , genetics : Molecular Chaperones.
- classification : Dystonic Disorders.
- genetics : Dystonic Disorders, Polymorphism, Single Nucleotide.
- Adult, Aged, Female, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Male, Middle Aged, Young Adult.

Abstract

Polymorphisms in the TOR1A/TOR1B region have been implicated as being associated with primary focal and segmental dystonia. In a cohort of subjects with either focal or segmental dystonia affecting the face, larynx, neck, or arm, we report a strong association of a single nucleotide polymorphism (SNP), the deletion allele at the Mtdel SNP (rs3842225), and protection from focal dystonia. In contrast, we did not find an association of either allele at the D216H SNP (rs1801968) with focal or segmental dystonia in the same cohort.

DOI: 10.1002/mds.23225
PubMed: 20669276

Links to Exploration step

pubmed:20669276

Le document en format XML

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<author><name sortKey="Sharma, Nutan" sort="Sharma, Nutan" uniqKey="Sharma N" first="Nutan" last="Sharma">Nutan Sharma</name>
<affiliation><nlm:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA. nsharma@partners.org</nlm:affiliation>
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<author><name sortKey="Franco, Ramon A" sort="Franco, Ramon A" uniqKey="Franco R" first="Ramon A" last="Franco">Ramon A. Franco</name>
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<author><name sortKey="Kuster, John K" sort="Kuster, John K" uniqKey="Kuster J" first="John K" last="Kuster">John K. Kuster</name>
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<author><name sortKey="Mitchell, Adele A" sort="Mitchell, Adele A" uniqKey="Mitchell A" first="Adele A" last="Mitchell">Adele A. Mitchell</name>
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<author><name sortKey="Bressman, Susan B" sort="Bressman, Susan B" uniqKey="Bressman S" first="Susan B" last="Bressman">Susan B. Bressman</name>
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<term>Female</term>
<term>Gene Frequency</term>
<term>Genetic Predisposition to Disease</term>
<term>Genome-Wide Association Study</term>
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<front><div type="abstract" xml:lang="en">Polymorphisms in the TOR1A/TOR1B region have been implicated as being associated with primary focal and segmental dystonia. In a cohort of subjects with either focal or segmental dystonia affecting the face, larynx, neck, or arm, we report a strong association of a single nucleotide polymorphism (SNP), the deletion allele at the Mtdel SNP (rs3842225), and protection from focal dystonia. In contrast, we did not find an association of either allele at the D216H SNP (rs1801968) with focal or segmental dystonia in the same cohort.</div>
</front>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.

Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.

Source :

English descriptors

Abstract

Links to Exploration step

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