Gianni Sorarù

TL;DR: Evidence of ALS being a complex genetic trait with a polygenic architecture is established and the SNP-based heritability is estimated at 8.5%, with a distinct and important role for low-frequency variants (frequency 1–10%).

TL;DR: Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia and Charcot-Marie-Tooth type 2.

TL;DR: In this paper, an exome-wide rare variant burden analysis of 363 index cases with familial ALS (FALS) was performed and the results revealed an excess of patient variants within TUBA4A, the gene encoding the Tubulin, Alpha 4A protein.

TL;DR: Osteopontin genotype is a genetic modifier of disease severity in Duchenne dystrophy and inclusion of genotype data as a covariate or in inclusion criteria in DMD clinical trials would reduce intersubject variance and increase sensitivity of the trials, particularly in older subjects.

TL;DR: The results show that FUS missense mutations are present in 0.7% of Italian SALS cases, and confirm the previous mutational frequency reported in FALS (4.4%).