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Spinocerebellar ataxia 1: case and cohort-based studies in India


Affiliations
1 Manipal University, Manipal 576 104
2 National Centre for Biological Sciences, Tata Institute of Fundamental Research, Bellary Road, Bengaluru 560 065, India
 

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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  • Spinocerebellar ataxia 1: case and cohort-based studies in India

Abstract Views: 247  |  PDF Views: 91

Authors

Dhanya Kumaran
Manipal University, Manipal 576 104
Gaiti Hasan
National Centre for Biological Sciences, Tata Institute of Fundamental Research, Bellary Road, Bengaluru 560 065, India

Abstract


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.

References





DOI: https://doi.org/10.18520/cs%2Fv109%2Fi5%2F889-892