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Published online before print September 7, 2005, doi:10.1212/01.wnl.0000176987.47875.28)
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NEUROLOGY 2005;65:1460-1461
© 2005 American Academy of Neurology
Brief Communications

Mutations in the glucocerebrosidase gene and Parkinson disease: Phenotype–genotype correlation

Judith Aharon-Peretz, MD, Samih Badarny, MD, Hanna Rosenbaum, MD and Ruth Gershoni-Baruch, MD

From the Department of Neurology and the Cognitive Neurology Unit, Hematology and Bone Marrow Transplantation and Human Genetics, Rambam Medical Center; Department of Neurology, Carmel Medical Center; and the Bruce Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel.

Address correspondence and reprint requests to Dr. Judith Aharon-Peretz, Cognitive Neurology Unit, Rambam Medical Center, Haifa, Israel; e-mail: jaharon{at}rambam.health.gov.il

Mutations in the glucocerebrosidase (GBA) gene have been recently identified as contributory to Parkinson disease (PD) in Ashkenazi Jews. In the present study, the clinical characteristics of Ashkenazi patients with PD with GBA mutations (n = 40) were compared to those of Ashkenazi patients with PD without any known GBA mutation (n = 108). The overall clinical manifestations and age at disease onset did not differ in patients with GBA mutations compared to patients without mutations.

This article was previously published in electronic format as an Expedited E-Pub on September 7, 2005, at www.neurology.org.

Disclosure: The authors report no conflicts of interest.

Received January 21, 2005. Accepted in final form June 20, 2005.




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