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Gaucher Disease Pathology

Scientists at University College, Institute of Neurology describe research in Gaucher disease pathology

Published in Blood Weekly, July 16th, 2009

A new study, 'Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease,' is now available. "Mutations in the glucocerebrosidase gene (GBA) are associated with Gaucher's disease, the most common lysosomal storage disorder. Parkinsonism is an established feature of Gaucher's disease and an increased frequency of mutations in GBA has been reported in several different ethnic series with sporadic Parkinson's disease," scientists in London, the United Kingdom report.

"In this study, we evaluated the frequency of GBA mutations in British patients affected by Parkinson's disease. We utilized the DNA of 790 patients and 257 controls, matched for...

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