Mutations in the Glucocerebrosidase Gene and Parkinson's Disease in Ashkenazi Jews

  • Aharon-Peretz J
  • Rosenbaum H
  • Gershoni-Baruch R
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Abstract

A clinical association has been reported between type 1 Gaucher's disease, which is caused by a glucocerebrosidase deficiency owing to mutations in the glucocerebrosidase gene (GBA), and parkinsonism. We examined whether mutations in the GBA gene are relevant to idiopathic Parkinson's disease.

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Aharon-Peretz, J., Rosenbaum, H., & Gershoni-Baruch, R. (2004). Mutations in the Glucocerebrosidase Gene and Parkinson’s Disease in Ashkenazi Jews. New England Journal of Medicine, 351(19), 1972–1977. https://doi.org/10.1056/nejmoa033277

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