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

Journal of genetics - 1 Mar 2018

Venkatesh Sowmya Devatha, Kandasamy Mahesh, Moily Nagaraj S, Vaidyanathan Radhika, Kota Lakshmi Narayanan, Adhikarla Syama, Yadav Ravi, Pal Pramod Kumar, Jain Sanjeev, Purushottam Meera

Abstract excerpt

Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative syndromes, characterized by a wide range of muscular weakness and motor deficits, caused due to cerebellar degeneration. 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...

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Spinocerebellar Ataxias

Tertiary Care Centers

Trinucleotide Repeat Expansion

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PMID: 29666341

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GAA
GCAT

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