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Current Neurology and Neuroscience Reports
Published in: Current Neurology and Neuroscience Reports 3/2010

01-05-2010

The Role of Glucocerebrosidase Mutations in Parkinson Disease and Lewy Body Disorders

Authors: Arash Velayati, W. Haung Yu, Ellen Sidransky

Published in: Current Neurology and Neuroscience Reports | Issue 3/2010

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Abstract

Mutations in the gene encoding glucocerebrosidase (GBA), the enzyme deficient in the lysosomal storage disorder Gaucher disease, are associated with the development of Parkinson disease and other Lewy body disorders. In fact, GBA variants are currently the most common genetic risk factor associated with parkinsonism, and identified subjects with Parkinson disease are more than five times more likely to carry mutations in GBA. The mechanisms underlying this association are not known, but proposed theories include enhanced protein aggregation, alterations in lipid levels, and autophagy-lysosomal dysfunction promoting the retention of undegraded proteins. We review the genetic studies linking GBA to parkinsonism, as well as several of the mechanisms postulated to explain the association of GBA mutations and the synucleinopathies, which demonstrate how studies of a rare mendelian disease may provide insights into our understanding of a common complex disorder.
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Metadata
Title
The Role of Glucocerebrosidase Mutations in Parkinson Disease and Lewy Body Disorders
Authors
Arash Velayati
W. Haung Yu
Ellen Sidransky
Publication date
01-05-2010
Publisher
Current Science Inc.
Published in
Current Neurology and Neuroscience Reports / Issue 3/2010
Print ISSN: 1528-4042
Electronic ISSN: 1534-6293
DOI
https://doi.org/10.1007/s11910-010-0102-x

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