Alessandro Brussino

TL;DR: This work identifies AFG3L2 as a novel cause of dominant neurodegenerative disease and indicates a previously unknown role for this component of the mitochondrial protein quality control machinery in protecting the human cerebellum against neurodegenersation.

TL;DR: Age at onset was influenced by the size of the normal allele in eight causal (CAG)n-containing genes and an interaction between the expanded and normal alleles in trans in individuals with spinocerebellar ataxia types 1, 6 and 7 suggests that there are biological relationships among these genes.

TL;DR: A four-generation Italian family with a novel form of juvenile-onset, slowly progressive, autosomal dominant cerebellar ataxia is described, which resulted in patients with longer disease duration developing slow saccades, ophthalmoparesis and, often, ptosis.

TL;DR: A second route to LMNB1 overexpression and ADLD is a new example of the relevance of regulatory landscape modifications in determining Mendelian phenotypes, and found that ADLD-1-TO plausibly results from an enhancer adoption mechanism.

TL;DR: This technique, primarily designed to detect premutation alleles, can be used as a routine first screen for expanded FMR1 alleles and was demonstrated to be a reliable tool to verify the presence of premutation and full mutation alleles.