title: 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.
authors.affiliation: Department of Research, Sir Ganga Ram Hospital, Rajinder Nagar, Delhi 110060, India; Department of Biotechnology, Jamia Hamdard, Hamdard Nagar, New Delhi, Delhi 110062, India.
authors.forename: Abhishek
authors.initials: A
authors.lastname: Vats
authors.affiliation: Department of Neurophysiology, Sir Ganga Ram Hospital, Rajinder Nagar, Delhi 110060, India; Department of Neurology, Institute of Human Behaviour and Allied Sciences, New Delhi 110095, India.
authors.forename: Mandaville
authors.initials: M
authors.lastname: Gourie-Devi
authors.affiliation: CSIR-Institute of Genomics and Integrative Biology, Mall Road, New Delhi 110007, India.
authors.forename: Varun
authors.initials: V
authors.lastname: Suroliya
authors.affiliation: Department of Research, Sir Ganga Ram Hospital, Rajinder Nagar, Delhi 110060, India.
authors.forename: Sagar
authors.initials: S
authors.lastname: Verma
authors.affiliation: CSIR-Institute of Genomics and Integrative Biology, Mall Road, New Delhi 110007, India.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Faruq
authors.affiliation: Department of Neurophysiology, Sir Ganga Ram Hospital, Rajinder Nagar, Delhi 110060, India.
authors.forename: Ankkita
authors.initials: A
authors.lastname: Sharma
authors.affiliation: Department of Research, Sir Ganga Ram Hospital, Rajinder Nagar, Delhi 110060, India.
authors.forename: Nirmal Kumar
authors.initials: NK
authors.lastname: Ganguly
authors.affiliation: CSIR-Institute of Genomics and Integrative Biology, Mall Road, New Delhi 110007, India.
authors.forename: Ritushree
authors.initials: R
authors.lastname: Kukreti
authors.affiliation: Department of Biotechnology, Jamia Hamdard, Hamdard Nagar, New Delhi, Delhi 110062, India.
authors.forename: Saima
authors.initials: S
authors.lastname: Wajid
authors.affiliation: Department of Research, Sir Ganga Ram Hospital, Rajinder Nagar, Delhi 110060, India. Electronic address: vibha.taneja@sgrh.com.
authors.forename: Vibha
authors.initials: V
authors.lastname: Taneja
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000503:physiopathology; D044466:Asian People / Q000235:genetics; D000073885:C9orf72 Protein; D042622:DNA Repeat Expansion; D005260:Female; D060005:Genotyping Techniques; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins
keywords: Amyotrophic lateral sclerosis; C9orf72; Hexanucleotide repeat expansion; India