title: Failure to find alpha-synuclein gene dosage changes in 190 patients with familial Parkinson disease.
abstract: BACKGROUND
  Recently, a triplication of the alpha-synuclein locus was found associated with autosomal dominant Parkinson disease in a large family.
  
  
  OBJECTIVE
  To determine whether a triplication or some other dosage alteration in the alpha-synuclein gene is present in one or more patients with familial PD in a large multinational collective.
  
  
  METHODS
  Retrospective recruitment of the largest families who were willing to cooperate with the study.
  
  
  METHODS
  Centers with specialization in movement disorders genetics.
  
  
  METHODS
  One hundred ninety unrelated patients with familial PD from Germany, Portugal, and Yugoslavia.
  
  
  METHODS
  Alpha-synuclein gene dosage values measured with real-time polymerase chain reaction.
  
  
  RESULTS
  None of the samples showed alpha-synuclein triplication, duplication, or deletion.
  
  
  CONCLUSIONS
  Alterations in alpha-synuclein gene dosage are rare in familial PD.
authors.affiliation: Institute for Experimental Neurobiology, University Hospital, Theodor-Stern-Kai 7, 60590 Frankfurt/Main, Germany.
authors.forename: Suzana
authors.initials: S
authors.lastname: Gispert
authors.forename: Claudia
authors.initials: C
authors.lastname: Trenkwalder
authors.forename: Luisa
authors.initials: L
authors.lastname: Mota-Vieira
authors.forename: Vladimir
authors.initials: V
authors.lastname: Kostic
authors.forename: Georg
authors.initials: G
authors.lastname: Auburger
mesh_terms: D000328:Adult; D000368:Aged; D005091:Exons; D005192:Family Health; D005260:Female; D018628:Gene Dosage; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D012333:RNA, Messenger / Q000096:biosynthesis; D012189:Retrospective Studies; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D051843:Synucleins; D051844:alpha-Synuclein
chemical_list: D009419:Nerve Tissue Proteins; D012333:RNA, Messenger; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein