Article
Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12.
Annals of neurology - 1 Dec 2001
Srivastava A K, Choudhry S, Gopinath M S, Roy S, Tripathi M, Brahmachari S K, Jain S
Abstract excerpt
Spinocerebellar ataxia 12 (SCA12) is a recently identified form of autosomal dominant cerebellar ataxia associated with the expansion of an unstable CAG repeat in the 5' untranslated region of the gene PPP2R2B. We analyzed 77 Indian families with autosomal dominant cerebellar ataxia phenotype and confirmed the diagnosis of SCA12 in 5 families, which included a total of 6 patients and 21 family members. The sizes...
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