Lorena Mosca

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 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: Demethylation of the D-loop region could represent a compensatory mechanism for mtDNA upregulation in carriers of ALS-linked SOD1 mutations.

TL;DR: This family confirms that mutation in transactive response (TAR)-DNA-binding protein 43 (TDP43), both the homozygous and the heterozygous state, may be found in subjects with different clinical conditions ranging from neurological disease to non-neurological disease.

TL;DR: The existence of novel genomic TBK1 variants including two loss-of-function (LoF) variants and two missense variants that were able to classify as potentially pathogenic are supported, supporting the relevance ofTBK1 in the Italian population with ALS.