Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12.
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.
Srivastava
A K
AK
Department of Neurology, Neurosciences Center, All India Institute of Medical Sciences, New Delhi.
Choudhry
S
S
Gopinath
M S
MS
Roy
S
S
Tripathi
M
M
Brahmachari
S K
SK
Jain
S
S
D000328:Adult; D017668:Age of Onset; D000067696:Ataxin-1; D000067528:Ataxins; D005260:Female; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
C000593749:ATXN1 protein, human; D000067696:Ataxin-1; D000067528:Ataxins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins