Jennifer M. Kachergus

TL;DR: The findings argue in favour of a causative role of the R621C mutation in the synphilin-1 gene in PD and suggest that the formation of intracellular inclusions may be beneficial to cells and that a mutation in synphilIn-1 that reduces this ability may sensitize neurons to cellular stress.

TL;DR: The distribution in age at onset and clinical features in LRRK2 p.R1441C patients are similar to idiopathic and Lrrk 2 p.G2019S parkinsonism, and several independent founders of the p.

TL;DR: Even a carrier of SNCA duplication may escape the development of PD, asymptomatic carriers displayed normal test results with the eldest individual aged 79 years, and this difference in age‐associated penetrance may be due to the genetic background or environmental exposures.

TL;DR: A role for LINGO1 and LingerO2 in determining risk for and perhaps age at onset of ET and PD is supported and further studies are warranted to confirm these findings and to determine the pathogenic mechanisms involved.

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.