Michelle Beavan

TL;DR: This study indicates that, as a group, GBA mutation-positive individuals show a deterioration in clinical markers consistent with the prodromal features of Parkinson disease.

TL;DR: Proof of principle that small molecule chaperones can reverse mutant GBA-mediated ER stress in vivo and might prove effective for treating PD is provided.

TL;DR: Parkinson disease (PD) is the second most common neurodegenerative disease after Alzheimer disease with a lifetime risk in the UK population of almost 5%. as discussed by the authors found 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.

TL;DR: Evidence is provided for dissociable signature deficits within the domain of visual short-term memory associated with GBA mutation and with Parkinson’s disease.

TL;DR: In this paper, the authors show that endoplasmic reticulum (ER) Ca2+ release was potentiated in type I GD and PD patients together with age-matched, asymptomatic carriers, all with the common N370S mutation in β-glucocerebrosidase.