Alida Griffith

TL;DR: Data collected demonstrate that there is a strong association between GBA mutations and Parkinson's disease, and those with a GBA mutation presented earlier with the disease, were more likely to have affected relatives, and were morelikely to have atypical clinical manifestations.

TL;DR: The genome-wide association study of 2,000 individuals with Parkinson's disease and unaffected controls confirmed associations with SNCA and MAPT and detected a new association with the HLA region, which was uniform across all genetic and environmental risk strata and was strong in sporadic and late-onset disease.

TL;DR: The findings suggest that GBA mutations exert a large effect on susceptibility for Lewy body disorders at the individual level but are associated with a modest population-attributable risk in individuals of European ancestry.

TL;DR: The data suggest that 1 or more unidentified functional SNCA variants modify risk for PD and that the effect is larger than and independent of REP1.

TL;DR: In this paper, the authors sequenced leucine-rich repeat kinase 2 (LRRK2) exons 31, 35, and 41 in 371 consecutively recruited patients with Parkinson disease and found mutations in six (1.6%) subjects, including two heterozygous for new putative pathogenic variants (R1441H, IVS31 + 3A→G).