SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study ofan Indian family

Spinocerebellar ataxia 12 (SCA12) is an autosomal dominant cerebellar ataxi a (ADCA) described in a single family with a CAG repeat expansion in the PP P2R2B gene. We screened 247 index cases, including 145 families with ADCA, for this expansion. An expanded repeat ranging from 55 to 61 triplets was d etected in 6 affected and 3 unaffected individuals at risk in a single fami ly from India. The association of the PPP2R2B CAG repeat expansion with dis ease in this new family provides additional evidence that the mutation is c ausative.