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Published online before print June 21, 2006, doi:10.1212/01.wnl.0000230215.41296.18)
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NEUROLOGY 2006;67:908-910
© 2006 American Academy of Neurology
Brief Communications

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.

Address correspondence and reprint requests to Dr. Ellen Sidransky, Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, Building 35, Room 1A100, 35 Convent Drive, MSC 3708, Bethesda, MD 20892-3708; e-mail: sidranse{at}mail.nih.gov.

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.

This article was previously published in electronic format as an Expedited E-Pub on June 21, 2006, at www.neurology.org.

This research was supported by the Intramural Research Program of the NIH, NHGRI, and NIMH and by NIA AG09215.

Disclosure: The authors report no conflicts of interest.

Received November 14, 2005. Accepted in final form May 4, 2006.




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