Article
SCA2 in the Indian population: Unified haplotype and variable phenotypic patterns in a large case series.
Parkinsonism & related disorders - 1 Aug 2021
Sonakar Akhilesh K, Shamim Uzma, Srivastava Mv Padma, Faruq Mohd, Srivastava Achal K
Abstract excerpt
BACKGROUND: Spinocerebellar ataxia-2 is one of the most prevalent SCA type across the world and one of the commonest in India. We aimed to characterize SCA2 patients both clinically and genetically (ATXN2-CAG repeats and its haplotypic background). METHODS: A total of 436 SCA2 patients were recruited consecutively comprising individuals of multiple ethnicities and two large multigenerational families. A detailed...
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