title: C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia.
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.
  
  
  METHODS
  A repeat-primed polymerase chain reaction assay.
  
  
  METHODS
  Academic research.
  
  
  METHODS
  Affected and unaffected individuals from 4 ALS/FTD families.
  
  
  METHODS
  The amplified C9orf72 repeat expansion.
  
  
  RESULTS
  We show that the repeat is expanded in and segregated perfectly with the disease in these 4 pedigrees.
  
  
  CONCLUSIONS
  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.
authors.affiliation: CHUM Research Center and Department of Medicine, Centre of Excellence in Neuroscience of Université de Montréal, Canada.
authors.forename: Hussein
authors.initials: H
authors.lastname: Daoud
authors.forename: Hamid
authors.initials: H
authors.lastname: Suhail
authors.forename: Mike
authors.initials: M
authors.lastname: Sabbagh
authors.forename: Veronique
authors.initials: V
authors.lastname: Belzil
authors.forename: Anna
authors.initials: A
authors.lastname: Szuto
authors.forename: Alexandre
authors.initials: A
authors.lastname: Dionne-Laporte
authors.forename: Jawad
authors.initials: J
authors.lastname: Khoris
authors.forename: William
authors.initials: W
authors.lastname: Camu
authors.forename: Francois
authors.initials: F
authors.lastname: Salachas
authors.forename: Vincent
authors.initials: V
authors.lastname: Meininger
authors.forename: Jean
authors.initials: J
authors.lastname: Mathieu
authors.forename: Michael
authors.initials: M
authors.lastname: Strong
authors.forename: Patrick A
authors.initials: PA
authors.lastname: Dion
authors.forename: Guy A
authors.initials: GA
authors.lastname: Rouleau
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D000073885:C9orf72 Protein; D002899:Chromosomes, Human, Pair 9; D042622:DNA Repeat Expansion; D005260:Female; D057180:Frontotemporal Dementia / Q000235:genetics*; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins