Giuseppe Lauria Pinter

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: The phenotype of amyotrophic lateral sclerosis cases carrying C9ORF72 hexanucleotide repeat expansions was described by providing a detailed clinical description of affected cases from representative multi-generational kindreds, and by analysing the age of onset, gender ratio and survival in a large cohort of patients with familial amyotroph lateral sclerosis.

TL;DR: All ALS associated signals combined reveal a role for perturbations in vesicle mediated transport and autophagy, and provide evidence for cell-autonomous disease initiation in glutamatergic neurons.

TL;DR: The data support the notion that TBK1 is a novel ALS gene, providing important evidence complementary to the first descriptions, and all variants were found to be deleterious according to in silico predictions.

TL;DR: In this large study on Italian and Sardinian ALS patients with C9ORF72 GGGGCC hexanucleotide repeat expansion, compared to age-, gender- and ethnic-matched controls, ATXN2 polyQ intermediate length does not represent a modifier of ALS risk, differently from non-C9ORf72 mutated patients.