Current Science

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Spinocerebellar ataxia 1 (SCA1) is a late-onset neurodegenerative disease caused by CAG (coding for glutamine) repeat expansions or polyglutamine (polyQ) aggregates in the ATXN1 gene. Apart from the causative CAG repeat expansions in the ATXN1 locus, environment and ethnicity have been hypothesized to affect clinical variability. This review brings together studies on SCA1 conducted in India and explores disease heterogeneity within the Indian population in general and within a cohort of SCA1 individuals in a South Indian village. The studies support existence of genetic factors in addition to CAG repeat sizes that are likely to influence SCA1 progression.

Keywords

Cohort studies, clinical variability, heterogeneity, genetic factors, neurodegenerative disease.
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