J. P. Pearson

TL;DR: The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases, and a large hexanucleotide repeat expansion in the first intron of C9ORF72 is shown.

TL;DR: Using a dataset of post-mortem brain samples assayed for gene expression and methylation, methylation and expression changes associated with PD risk variants in PARK16/1q32, GPNMB/7p15, and STX1B/16p11 loci are identified, suggesting potential molecular mechanisms and candidate genes at these risk loci.

TL;DR: A genome-wide association study in 1705 Parkinson's disease UK patients and 5175 UK controls, the largest sample size so far for a PD GWAS, found weak but consistent evidence of association for common variants located in three previously published associated regions.

TL;DR: This study screened 136 EOPD probands from a high‐ascertainment regional and community‐based prevalence study for pathogenic mutations in PARK2 (parkin), PINK1, PARK7 (DJ‐1), and exon 41 of LRRK2 and shows an increased likelihood of mutations in patients with lower AAO, family history, or parental consanguinity.

TL;DR: The clinical phenotype and pathology of a large family with autosomal dominant FTD/ALS with nine affected members originating from Gwent in South Wales, UK is described and a large 4.8-megabase haplotype on chromosome 9p21 is identified, which was shared by all affected family members.