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Published online before print September 7, 2005, doi:10.1212/01.wnl.0000176987.47875.28)
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Received January 21, 2005
Accepted June 20, 2005

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.


* To whom correspondence should be addressed. E-mail: jaharon{at}rambam.health.gov.il.

Abstract-- 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.




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