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.