Jan O. Aasly

TL;DR: Genealogical investigation of a large Norwegian family with autosomal dominant parkinsonism has identified 18 affected family members over four generations, and a novel pathogenic LRRK2 mutation c.4309 A>C (p.Asn1437His) is located within the Roc domain of the protein and enhances GTP‐binding and kinase activity, further implicating these activities as the mechanisms that underlie L RRK2‐linked parkinsonists.

TL;DR: KIBRA is associated with both individual variation in normal episodic memory and predisposition to AD, and non-carriers of the KIBRA T-allele had increased risk of late-onset AD.

TL;DR: The study demonstrates the feasibility of undertaking drug screens in Parkinson's disease patients' tissue and has identified a group of chemically-related compounds with marked mitochondrial rescue effect, including ursolic acid as a naturally occurring compound and ursodeoxycholic Acid as an already licensed drug as promising compounds for future neuroprotective trials in Parkinson’s disease.

TL;DR: Results support a compensatory role of increased DA turnover in presymptomatic Parkinson's disease and indicate that at this stage, in contrast to the symptomatic PD phase, increased turnover is not related to DAT.

TL;DR: This study performed the largest multi-center study to ascertain the frequency and pathogenicity of the reported vacuolar protein sorting 35 gene variants in more than 15,000 individuals worldwide and identified the p.Asp620Asn variant in familial cases and identified it in idiopathic Parkinson disease cases.