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Spinocerebellar ataxia type 17 in Indian patients: two rare cases of homozygous expansions

29 Oct 2010

Abstract excerpt

We screened a cohort of 181 patients with features of primary progressive ataxia and chorea for spinocerebellar ataxias 17 (SCA17) mutation after excluding other known SCAs, Huntington's disease (HD), dentatorubral-pallidoluysian atrophy (DRPLA), and non-genetic causes. This study included patients with known family history of SCA, those with sporadic onset and cases of uncertain family history. Two unrelated...

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PMID: 21108634
DOI: 10.1111/j.1399-0004.2010.01589.x

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