title: LRRK2, GBA and SMPD1 Founder Mutations and Parkinson's Disease in Ashkenazi Jews.
abstract: Parkinson's disease (PD) is associated with mutations in LRRK2, GBA, and SMPD1 genes. We describe the clinical characteristics of PD patients related to their carrier status of the Ashkenazi founder mutations in the aforementioned genes.
  
  
  
  Ashkenazi PD patients (n = 270) were recruited following informed consent, and tested for the founder Ashkenazi mutations in the above genes. Clinical characteristics were compared between carriers and noncarriers. Homozygotes for mutations in GBA or LRRK2, and those who carried mutations in two causative genes were excluded from the analysis.
  
  
  
  Five (1.85%), 54 (20%), and 22 (8.1%) PD patients carried mutations in SMPD1, GBA or LRRK2, respectively. By post hoc Bonferroni analysis, GBA carriers were singled at a significantly earlier age at diagnosis compared to noncarriers (58.06 ± 10.84 and 62.65 ± 10.86 years, respectively; p = 0.036), and due to bilateral manifestation at diagnosis compared to all other PD groups (n = 8, 15.7% compared to n = 2, 1.1%, respectively; p < 0.001). Other clinical manifestations were comparable between groups.
  
  
  
  Although only GBA mutation carriers, compared to noncarriers, reached statistical significance regarding age at diagnosis, it appears that LRRK2 and SMPD1 mutation carriers may reach significance with larger group numbers.
authors.affiliation: Department of Nursing, Faculty of Social Welfare and Health Sciences, University of Haifa, Haifa, Israel.
authors.forename: Efrat
authors.initials: E
authors.lastname: Dagan
authors.forename: Ilana
authors.initials: I
authors.lastname: Schlesinger
authors.forename: Alina
authors.initials: A
authors.lastname: Kurolap
authors.forename: Mareemar
authors.initials: M
authors.lastname: Ayoub
authors.forename: Maria
authors.initials: M
authors.lastname: Nassar
authors.forename: Judith
authors.initials: J
authors.lastname: Peretz-Aharon
authors.forename: Ruth
authors.initials: R
authors.lastname: Gershoni-Baruch
mesh_terms: D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D020022:Genetic Predisposition to Disease; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D007557:Israel / Q000453:epidemiology; D007585:Jews / Q000235:genetics; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 / Q000235:genetics*; D008297:Male; D009154:Mutation; D009483:Neuropsychological Tests; D010300:Parkinson Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000523:psychology; D013108:Sphingomyelin Phosphodiesterase / Q000235:genetics; D063189:Symptom Assessment / Q000379:methods / Q000706:statistics & numerical data
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; C543066:SMPD1 protein, human; D013108:Sphingomyelin Phosphodiesterase; D005962:Glucosylceramidase