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Tracy Hampton, PhD

JAMA. 2006;296:924.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

Researchers at the National Human Genome Research Institute, in Bethesda, Md, and the University of Pennsylvania School of Medicine, in Philadelphia, have found that gene mutations first identified as the cause of the rare inherited metabolic disorder, Gaucher disease, may also contribute to the development of a relatively common neurodegenerative disease known as dementia with Lewy bodies, or DLB (Goker-Alpan O et al. Neurology. doi: 10.1212/01.wnl.0000230215.41296.18 [published online ahead of print June 21, 2006]).

The key alterations are within the gene that codes for an enzyme called glucocerebrosidase (GBA). Individuals with Gaucher disease have a deficiency of the GBA enzyme, which is involved in the breakdown and recycling of the glycolipid, glucocerebroside.

Fluid-filled ventricles (center blue) and holes (dark blue) indicate the brain atrophy of dementia with Lewy bodies. Newly identified mutations may play a role in the disease. (Photo credit: W. Crum, DPhil/http://www.sciencesource.com)

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