Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset.

@article{GanOr2008GenotypephenotypeCB,
  title={Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset.},
  author={Ziv Gan-Or and Nir Giladi and Uri Rozovski and C Shifrin and Serena Rosner and Tanya Gurevich and Anat Bar-Shira and Avi Orr-Urtreger},
  journal={Neurology},
  year={2008},
  volume={70 24},
  pages={2277-83}
}
BACKGROUND Mutations in GBA and LRRK2 genes have been implicated in Parkinson disease (PD), particularly in Ashkenazi Jews. METHODS An Israeli Ashkenazi cohort of 420 patients with PD, 333 elderly controls, and 3,805 young controls was screened for eight GBA mutations, which are associated with mild (N370S, R496H) and severe (84GG, IVS2 + 1, V394L, D409H, L444P, RecTL) Gaucher disease. Patients with PD and elderly controls were also genotyped for LRRK2 G2019S. RESULTS GBA carrier frequency… CONTINUE READING
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The LRRK 2 G 2019 S mutation in Ashkenazi Jews with Parkinson ’ s disease : is there a gender effect ?

  • A Orr-Urtreger, C Shifrin, U Rozovski
  • Neurology
  • 2007

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