Polymorphisms of alpha-actinin-3 and ciliary neurotrophic factor in national-level Italian athletes.

Aim: The R577X polymorphism of the alpha-actinin-3 (ACTN3) gene and the IVS1-6G>A polymorphism of the ciliary neurotrophic factor (CNTF) gene have been associated with a favourable muscle phenotype (more muscle fibres with high glycolytic activity), reduced predisposition for congenital dystrophy and resistance to sarcopenia in old age. The aim of this study was to look for evidence of selective pressure towards genotypes favourable for strong muscle activity in a sample of national-level Italian athletes.

Methods: We analysed two stop codon polymorphisms in the DNA of 50 Italian athletes, specialised in power or endurance sports, and compared their genotypic distribution with those of a population of 50 controls.

Semantic paralexias: a group-case study on the underlying functional mechanisms, incidence and clinical features in a consecutive series of 340 Italian aphasics.

We studied the reading performance of 340 consecutive, Italian-speaking aphasics in order to evaluate the clinical features of deep dyslexia, the functional impairments underlying semantic paralexias, and their neuranatomical correlates. Semantic paralexias were observed in 9/340 subjects (2.4%).