Evidence of a common founder for SCA12 in the Indian population.

@article{Bahl2005EvidenceOA,
  title={Evidence of a common founder for SCA12 in the Indian population.},
  author={Samira Bahl and Komal Virdi and Uma Mittal and Mohinder Pal Sachdeva and Aloke Kumar Kalla and Susan Elizabeth Holmes and Elizabeth E O'Hearn and Russell L. Margolis and Sanjeev R. Jain and Achal K. Srivastava and Mitali Mukerji},
  journal={Annals of human genetics},
  year={2005},
  volume={69 Pt 5},
  pages={
          528-34
        }
}
Spinocerebellar ataxia type 12 (SCA12) is an autosomal dominant cerebellar ataxia associated with the expansion of an unstable CAG repeat in the 5' region of the PPP2R2B gene on chromosome 5q31-5q32. We found that it accounts for approximately 16% (20/124) of all the autosomal dominant ataxia cases diagnosed in AIIMS, a major tertiary referral centre in North India. The length of the expanded allele in this population ranges from 51-69 CAG triplets. Interestingly, all the affected families… CONTINUE READING
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