. Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Arch Neurol. 2008 Mar;65(3):379-82. PubMed.

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  1. This paper adds momentum to the growing concept that GBA mutations play a role in the susceptibility to the Lewy body disorders PD and DLB. Importantly, a large number of patients and controls were studied, although only the two most common GBA mutations were searched for. A small but significant rate of GBA mutations was detected in the PD group. Similar results have been documented in a number of other locations and ethnicities. Presumably in these GBA-mutated PD patients, α-synuclein processing is altered, and so the key question for future studies is to understand how glucocerebrosidase mutations lead to processing changes in α-synuclein. Potential influencers include an increase in glucosylceramide substrate accumulation (after all, synuclein is known to be a lipid-binding protein), GBA misfolding, and trafficking failure and/or general lysosomal dysfunction. Detailed molecular analysis will be needed to unravel this intriguing puzzle.

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