title: Neurofilament M gene in a French-Canadian population with Parkinson's disease.
abstract: BACKGROUND
  Recently, a single base pair substitution (G1747A) mutation of the neurofilament M (NF-M) gene was reported in a French-Canadian patient with early onset Parkinson's disease (PD). Three unaffected siblings were found to be heterozygotes for the NF-M Gly336Ser mutation but, to date, no other affected PD individuals have been found with a similar mutation. No other individuals with Parkinson's disease and of similar ethnic background have been screened for this mutation.
  
  
  METHODS
  We screened 102 French-Canadian patients with definite PD and 45 French-Canadian controls for this substitution in the NF-M gene using a PCR-restriction enzyme digestion method.
  
  
  RESULTS
  None of the patients or controls carried this mutation.
  
  
  CONCLUSIONS
  Our results would indicate that this mutation is not common even in a PD population of similar ethnic background and suggest this change represents a rare variant. However, these results do not exclude the possibility that other mutations in this gene could be present.
authors.affiliation: Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Canada.
authors.forename: F
authors.initials: F
authors.lastname: Han
authors.forename: D E
authors.initials: DE
authors.lastname: Bulman
authors.forename: M
authors.initials: M
authors.lastname: Panisset
authors.forename: D A
authors.initials: DA
authors.lastname: Grimes
mesh_terms: D000368:Aged; D002170:Canada / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016900:Neurofilament Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D016900:Neurofilament Proteins; C061195:neurofilament protein M