C9orf72 Hexanucleotide Repeat Expansions as the Causative Mutation for Chromosome 9p21–Linked Amyotrophic Lateral Sclerosis and Frontotemporal Dementia | Amyotrophic Lateral Sclerosis | JAMA Neurology | JAMA Network
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Original Contribution
Sep 2012

C9orf72 Hexanucleotide Repeat Expansions as the Causative Mutation for Chromosome 9p21–Linked Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

Author Affiliations

Author Affiliations: CHUM Research Center and Department of Medicine, Centre of Excellence in Neuroscience of Université de Montréal (Drs Daoud, Suhail, Sabbagh, Dion, and Rouleau and Mss Belzil, Szuto, and Dionne-Laporte), and Department of Pathology and Cell Biology, Faculty of Medicine (Dr Dion), Université de Montréal, and Research Center, CHU Sainte-Justine (Dr Rouleau), Montreal, and Clinique des maladies neuromusculaires, Faculté de médecine et des sciences de la santé, Université de Sherbrooke, Sherbrooke (Dr Mathieu), Quebec, and Department of Clinical Neurological Sciences and Robarts Research Institute, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario (Dr Strong), Canada; and Unité de Neurologie Comportementale et Dégénérative, Institute of Biology, Montpellier (Dr Khoris and Camu), and Fédération des Maladies du Système Nerveux, Assistance Publique–Hôpitaux de Paris, Centre de référence maladies rares SLA, Hôpital Pitié-Salpêtrière, Paris (Drs Salachas and Meininger), France.

Arch Neurol. 2012;69(9):1159-1163. doi:10.1001/archneurol.2012.377
Abstract

Objective To further assess the presence of a large hexanucleotide repeat expansion in the first intron of the C9orf72 gene identified as the genetic cause of chromosome 9p21–linked amyotrophic lateral sclerosis and frontotemporal dementia (c9ALS/FTD) in 4 unrelated families with a conclusive linkage to c9ALS/FTD.

Design A repeat-primed polymerase chain reaction assay.

Setting Academic research.

Participants Affected and unaffected individuals from 4 ALS/FTD families.

Main Outcome Measure The amplified C9orf72 repeat expansion.

Results We show that the repeat is expanded in and segregated perfectly with the disease in these 4 pedigrees.

Conclusion Our findings further confirm the C9orf72 hexanucleotide repeat expansion as the causative mutation for c9ALS/FTD and strengthen the hypothesis that ALS and FTD belong to the same disease spectrum.

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