title: Osteopontin polymorphic susceptibility factor for Parkinson's disease among patients with Gaucher disease.
abstract: BACKGROUND
  There is an increased incidence of Parkinson's disease among obligate carriers of the common glucocerebrosidase mutations, and among patients with Parkinson disease there is an increased number who are carriers of glucocerebrosidase mutations. A Gaucher mutation is considered a susceptibility factor for Parkinson's disease. Osteopontin single-nucleotide polymorphism-66 is associated with Lewy body disease and considered a susceptibility factor. The aim of this study was to ascertain whether Gaucher patients with parkinsonism carry the osteopontin single-nucleotide polymorphism-66 polymorphic genotype TT to a greater extent than other Gaucher patients.
  
  
  METHODS
  Seventy adult patients with at least 1 allele having the common N370S Gaucher mutation including 10 patients with Parkinson's disease were included.
  
  
  RESULTS
  There was no statistically significant difference in incidence of the TT genotype in patients with clinically symptomatic Parkinson's disease (88.9%) and other Gaucher patients (72.1%).
  
  
  CONCLUSIONS
  This may partly explain the increased incidence of Parkinson's disease associated with Gaucher mutations.
authors.affiliation: Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel.
authors.forename: Avigayil
authors.initials: A
authors.lastname: Ribner
authors.forename: Gheona
authors.initials: G
authors.lastname: Altarescu
authors.forename: Ari
authors.initials: A
authors.lastname: Zimran
authors.forename: Deborah
authors.initials: D
authors.lastname: Elstein
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D005776:Gaucher Disease / Q000453:epidemiology* / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005838:Genotype; D005962:Glucosylceramidase / Q000235:genetics; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D053495:Osteopontin / Q000235:genetics*; D010300:Parkinson Disease / Q000453:epidemiology* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015995:Prevalence; D012307:Risk Factors
chemical_list: D053495:Osteopontin; D005962:Glucosylceramidase