Analysis of C9orf72 repeat expansion in amyotrophic lateral sclerosis patients from North India

Abstract

Pathogenic expansion of a hexanucleotide repeat in C9orf72 is associated with ~30% of familial ALS and ~7% of sporadic ALS patients amongst different populations. This repeat expansion was screened in 75 ALS patients and 115 healthy individuals from North India. On analysis by repeat-primed PCR, pathogenic expansion was not observed either in ALS patients or healthy controls. These observations are similar to the findings in most of the Asian populations.

Keywords: Amyotrophic lateral sclerosis; C9orf72; Hexanucleotide repeat expansion; India.