• E.J. Groen
  • M.A. van Es
  • P.W. van Vught
  • W.G.M. Spliet
  • J. van Engelen-Lee
  • M. de Visser
  • J.H. Wokke
  • H.J. Schelhaas
  • R.A. Ophoff
  • K. Fumoto
  • R.J. Pasterkamp
  • D. Dooijes
  • E. Cuppen
  • J.H. Veldink
  • L. van den Berg
OBJECTIVES: To assess the frequency of FUS mutations in 52 probands with familial amyotrophic lateral sclerosis (FALS) and to provide careful documentation of clinical characteristics. DESIGN: FUS mutation analysis was performed using capillary sequencing on all coding regions of the gene in a cohort of patients with FALS. The clinical characteristics of patients carrying FUS mutations were described in detail. SETTING: Three university hospitals in the Netherlands (referral centers for neuromuscular diseases). PATIENTS: Fifty-two probands from unrelated pedigrees with FALS. MAIN OUTCOME MEASURE: FUS mutations. RESULTS: We identified 3 mutations in 4 of 52 probands. We observed 2 previously identified mutations (p.Arg521Cys and p.Arg521His) and 1 novel mutation (p.Ser462Phe). In addition, a p.Gln210His polymorphism was identified in 1 proband and 3 healthy control subjects. Phenotypic analysis demonstrated that patients may lack upper motor neuron signs, which was confirmed at autopsy, and disease survival was short (
Original languageEnglish
JournalArchives of Neurology
Journal publication date2010

ID: 355040