Genetic testing for clinically suspected spinocerebellar ataxias: report from a tertiary referral centre in India

Sowmya Devatha Venkatesh, Mahesh Kandasamy, Nagaraj S. Moily, Radhika Vaidyanathan, Lakshmi Narayanan Kota, Syama Adhikarla, Ravi Yadav, Pramod Kumar Pal, Sanjeev Jain, Meera Purushottam. J Genet (2018). doi:10.1007/s12041-018-0911-2

The prevalence of the syndromes of SCA varies across the world and is known to be linked to the instability of trinucleotide repeats within the high-end normal alleles, along with susceptible haplotype. We estimated sizes of the CAG or GAA repeat expansions at the SCA1, SCA2, SCA3, SCA12 and frataxin loci among 864 referrals of subjects to genetic counselling and testing (GCAT) clinic, National Institute of Mental Health and Neurosciences, Bengaluru, India, with suspected SCA. The most frequent mutations detected were SCA1 (n=100 (11.6%)) and SCA2 (n=98 (11.3%)) followed by SCA3 (n=40 (4.6%)), FRDA (n=20 (2.3%)) and SCA12 (n=8 (0.9%)).

 Genetic testing for clinically suspected spinocerebellar ataxias: report from a tertiary referral centre in India