Monday, February 5, 2018

To study the genotype - phenotype correlation of Friedreich’s Ataxia (FRDA) patients in Indian population

I. Ahmad, A. Kumar Srivastava, M. Faruq, V. Padma Srivastava M., Parkinsonism & Related Disorders, Volume 46, Supplement 2, January 2018, Page e7, ISSN 1353-8020, doi:10.1016/j.parkreldis.2017.11.023.

This is the largest genotype and phenotype series on FRDA in Indian population. This study showed GAA1 size affects the cerebellar atrophy, muscles twisting and tremor.

 To study the genotype - phenotype correlation of Friedreich’s Ataxia (FRDA) patients in Indian population