Article
The link between the GBA gene and parkinsonism.
The Lancet. Neurology - 1 Nov 2012
Sidransky Ellen, Lopez Grisel
Abstract excerpt
Mutations in the glucocerebrosidase (GBA) gene, which encodes the lysosomal enzyme that is deficient in Gaucher's disease, are important and common risk factors for Parkinson's disease and related disorders. This association was first recognised in the clinic, where parkinsonism was noted, albeit rarely, in patients with Gaucher's disease and more frequently in relatives who were obligate carriers. Subsequently,...
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