SCA 1, 2, 3 and FRDA were the most common causes of ataxia. SCA 6, 7, 8, 12, 17, and 36 were absent in the cohort studied. NGS testing revealed several rare forms of ataxia. Clinical features based testing is cost-effective, achieves good genotype-phenotype correlation, and prioritizes variants for further studies.
Sunday, July 3, 2022
Clinical and Molecular Spectrum of Degenerative Cerebellar Ataxia: A Single Centre Study
Balakrishnan S, Aggarwal S, Muthulakshmi M, Meena AK, Borgohain R, Mridula KR, Yareeda S, Ranganath P, Dalal A. Neurol India 2022;70:934-42 DOI: 10.4103/0028-3886.349660
