C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia

Hussein Daoud, Hamid Suhail, Mike Sabbagh, Veronique Belzil, Anna Szuto, Alexandre Dionne-Laporte, Jawad Khoris, William Camu, Francois Salachas, Vincent Meininger, Jean Mathieu, Michael Strong, Patrick A. Dion, Guy A. Rouleau

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

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: Arepeat-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: Weshow 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.

Original languageEnglish (US)
Pages (from-to)1159-1163
Number of pages5
JournalArchives of neurology
Volume69
Issue number9
DOIs
StatePublished - Sep 2012

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

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