Article
Glucocerebrosidase mutations and the pathogenesis of Parkinson disease.
Annals of medicine - 1 Dec 2013
Beavan Michelle S, Schapira Anthony H V
Abstract excerpt
Parkinson disease (PD) is the second most common neurodegenerative disease after Alzheimer disease with a lifetime risk in the UK population of almost 5%. An association between PD and Gaucher disease (GD) derived from the observation that GD patients and their heterozygous carrier relatives were at increased risk of PD. GD is an autosomal recessive lysosomal storage disorder caused by homozygous mutations in the...
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