Glucocerebrosidase mutations are an important risk factor for Lewy body disorders.
case_series · Level IV
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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.
Medical subject headings
- Glucosylceramidase
- Lewy Body Disease
- Mutation