title: The occurrence of mutations in FUS in a Belgian cohort of patients with familial ALS.
abstract: OBJECTIVE
  Mutations in fused in sarcoma (FUS) were recently identified as a cause of familial amyotrophic lateral sclerosis (ALS). The frequency of occurrence of mutations in FUS in sets of patients with familial ALS remains to be established.
  
  
  METHODS
  We sequenced the FUS gene in a cohort of patients with familial ALS seen at the neuromuscular clinic in Leuven. A total of 28 patients with SOD1-negative ALS from 22 families were analyzed.
  
  
  RESULTS
  We identified a R521H mutation in 4 patients, belonging to a kindred of dominantly inherited classical ALS. The mutation segregated with disease. Mutations in FUS were observed in 2.9% of ALS pedigrees in our cohort.
  
  
  CONCLUSIONS
  These results show that mutations in FUS are also a significant cause of familial ALS in Belgium.
authors.affiliation: Department of Neurology, Leuven University Hospital, Herestraat 49, 3000 Leuven, Belgium. philip.vandamme@uz.kuleuven.be
authors.forename: P Van
authors.initials: PV
authors.lastname: Damme
authors.forename: A
authors.initials: A
authors.lastname: Goris
authors.forename: V
authors.initials: V
authors.lastname: Race
authors.forename: N
authors.initials: N
authors.lastname: Hersmus
authors.forename: B
authors.initials: B
authors.lastname: Dubois
authors.forename: L Van Den
authors.initials: LV
authors.lastname: Bosch
authors.forename: G
authors.initials: G
authors.lastname: Matthijs
authors.forename: W
authors.initials: W
authors.lastname: Robberecht
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology / Q000235:genetics*; D001530:Belgium; D015331:Cohort Studies; D018450:Disease Progression; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D034702:RNA-Binding Protein FUS / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D034702:RNA-Binding Protein FUS