Literature DB >> 20669276

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

Nutan Sharma1, 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.   

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.

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Year:  2010        PMID： 20669276      PMCID： PMC3095887          DOI： 10.1002/mds.23225

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


  31 in total

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Review 8.  Risk Factor Genes in Patients with Dystonia: A Comprehensive Review.

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  8 in total

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