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 journalArticle

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 1 2012

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

Fingerprint Dive into the research topics of 'C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia'. Together they form a unique fingerprint.

  • Cite this

    Daoud, H., Suhail, H., Sabbagh, M., Belzil, V., Szuto, A., Dionne-Laporte, A., Khoris, J., Camu, W., Salachas, F., Meininger, V., Mathieu, J., Strong, M., Dion, P. A., & Rouleau, G. A. (2012). C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia. Archives of neurology, 69(9), 1159-1163. https://doi.org/10.1001/archneurol.2012.377