Analysis of C9orf72 repeat expansion in amyotrophic lateral sclerosis patients from North India
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Published on: May 16, 2017
Abhishek Vats1, Mandaville Gourie-Devi2, Varun Suroliya3
1Department of Research, Sir Ganga Ram Hospital, Rajinder Nagar, Delhi 110060, India; Department of Biotechnology, Jamia Hamdard, Hamdard Nagar, New Delhi, Delhi 110062, 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.

