LRRK2, GBA and SMPD1 Founder Mutations and Parkinson's Disease in Ashkenazi Jews

Efrat Dagan, Ilana Schlesinger, Alina Kurolap, Mareemar Ayoub, Maria Nassar, Judith Peretz-Aharon, Ruth Gershoni-Baruch

Research output: Contribution to journalArticlepeer-review

Abstract

Background/Aim: 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. Methods: 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. Results: 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. Conclusion: 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.

Original languageEnglish
Pages (from-to)1-6
Number of pages6
JournalDementia and Geriatric Cognitive Disorders
Volume42
Issue number1-2
DOIs
StatePublished - 1 Sep 2016

Bibliographical note

Publisher Copyright:
© 2016 S. Karger AG, Basel.

Keywords

  • GBA
  • Gaucher disease
  • LRRK2
  • Niemann-Pick disease
  • Parkinson's disease
  • SMPD1

ASJC Scopus subject areas

  • Geriatrics and Gerontology
  • Psychiatry and Mental health
  • Cognitive Neuroscience

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