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Mol Genet Metab. 2004 Jan;81(1):70-3.

Glucocerebrosidase mutations in subjects with parkinsonism.

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  • 1Section on Molecular Neurogenetics, National Institute of Mental Health and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda MD 20892-4405, USA.


Recent studies showing an association between glucocerebrosidase deficiency and parkinsonism in Gaucher disease prompted an examination of the glucocerebrosidase gene sequence (GBA) and enzyme activity in brain samples from 57 subjects carrying the diagnosis of Parkinson disease. Alterations in GBA were identified in 12 samples (21%) and were more frequent among the younger subjects. These included eight with mutations (N370S, L444P, K198T, and R329C) and four with probable polymorphisms (T369M and E326K). Our findings suggest that mutations in glucocerebrosidase may be a risk factor for the development of parkinsonism.

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