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Movement Disorders (revue)

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

Identifieur interne : 000168 ( Pmc/Corpus ); précédent : 000167; suivant : 000169

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

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

Source :

RBID : PMC:3095887

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.


Url:
DOI: 10.1002/mds.23225
PubMed: 20669276
PubMed Central: 3095887

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