Spinocerebellar Ataxia (SCA) is a heterogeneous adult-onset disorder with an 
autosomal dominant inheritance pattern mainly caused by triplet repeat 
expansions. Clinical diagnosis of SCA is based on phenotypic features followed 
by confirmation through molecular diagnosis. To identify status of repeat range 
in Indian SCA cases and provide extended family screening, we enrolled 70 
clinical SCA suspects. For molecular diagnosis, multiplex PCR (M-PCR) was used 
for common Indian SCA subtypes 1, 2, 3, 6, 7, 10, 12 and 17. TP-PCR was further 
used in SCA2, 7 and 10 to identify larger expansions. Eighteen out of 70 SCA 
suspects (25%) were found to be positive for various SCA subtypes- (5 SCA1 
(28%), 6 SAC2 (34%), 2 SCA3 (12%), 3 SCA7 (16%) and one each for SCA6 (1%) and 
SCA17 (1%) subtypes). Genetic counselling and extended family screening were 
offered to all positive cases and yielded additional nine cases. We have 
established M-PCR and TP-PCR to detect the CAG repeat expansion in SCA suspects. 
This method can confirm SCA subtypes in a reliable, rapid and cost-effective 
way. Genetic characterization of SCA-related genes has great clinical relevance, 
as it could provide additional information and guidance to clinicians and family 
members regarding prognosis.