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Published online before print June 21, 2006, doi:10.1212/01.wnl.0000230215.41296.18)
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Received November 14, 2005
Accepted May 4, 2006

Glucocerebrosidase mutations are an important risk factor for Lewy body disorders

O. Goker-Alpan MD, B. I. Giasson PhD, M. J. Eblan BA, J. Nguyen BA, H. I. Hurtig MD, V. M.-Y. Lee PhD, J. Q. Trojanowski MD, PhD, and E. Sidransky MD*

From the Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD (O.G.-A., M.J.E., J.N., E.S.); and the Departments of Pharmacology (B.I.G.), Neurology (H.I.H.), and Pathology and Laboratory Medicine (V.M.-Y.L., J.Q.T.), University of Pennsylvania School of Medicine, Philadelphia, PA.


* To whom correspondence should be addressed. E-mail: sidranse{at}mail.nih.gov.

Abstract-- The synucleinopathies are neurodegenerative disorders defined by inclusions composed of aberrantly fibrillized {alpha}-synuclein, but factors contributing to this process remain largely unknown. The authors examined the glucocerebrosidase gene in 75 autopsy specimens with different synucleinopathies and identified mutations in 23% of cases of dementia with Lewy bodies, expanding on previous findings in subjects with Parkinson disease. Mutations in this lysosomal protein may interfere with the clearance or promote aggregation of {alpha}-synuclein.




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