Comparative Study
doi: 10.1212/01.wnl.0000230215.41296.18.
Epub 2006 Jun 21.
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders
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- PMID: 16790605
- DOI: 10.1212/01.wnl.0000230215.41296.18
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Comparative Study
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders
Neurology.
.
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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