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Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12
Author(s) -
Srivastava Achal K.,
Choudhry Shweta,
Gopinath Musuwadi S.,
Roy Sanghamitra,
Tripathi Manjari,
Brahmachari Samir K.,
Jain Satish
Publication year - 2001
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10048
Subject(s) - spinocerebellar ataxia , cerebellar ataxia , allele , ataxia , genetics , trinucleotide repeat expansion , phenotype , cerebellum , biology , medicine , gene , neuroscience
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 of the expanded alleles ranged from 55 to 69 CAG repeats, and the sizes of the normal alleles ranged from 7 to 31 repeats. We believe our study is the first to demonstrate that SCA12 may not be as rare in some populations as previously thought.