Article
Glucocerebrosidase enzyme activity in GBA mutation Parkinson's disease.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Jun 2016
Ortega Roberto A, Torres Paola A, Swan Matthew, Nichols William, Boschung Sarah, Raymond Deborah, Barrett Matthew J, Johannes Brooke A, Severt Lawrence, Shanker Vicki, Hunt Ann L, Bressman Susan, Pastores Gregory M, Saunders-Pullman Rachel
Abstract excerpt
Mutations in the glucocerebrosidase (GBA1) gene, the most common genetic contributor to Parkinson's disease (PD), are associated with an increased risk of PD in heterozygous and homozygous carriers. While glucocerebrosidase enzyme (GCase) activity is consistently low in Gaucher disease, there is a range of leukocyte GCase activity in healthy heterozygous GBA1 mutation carriers. To determine whether GCase activity...
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