Giuseppe Di Iorio

TL;DR: Clinical trials on enzyme replacement therapy (ERT) support the efficacy in improving survival and hypertrophic cardiomyopathy, while efficacy seems to be variable on manifestations due to skeletal muscle involvement, mainly in lateonset patients.

TL;DR: The new GRN 708+4A>T splicing mutation, identified in 2 siblings of a family with several members affected by cognitive, behavioral, and motor disorders, is identified and Plasma progranulin dosage and GRN expression analysis supported the pathogenicity of the mutation.

TL;DR: The case of a 17-year-old female affected by Foix-Chavany-Marie syndrome and congenital cytomegalovirus infection is described, evaluating the possible etiopathogenetic correlation between cerebral cortical dysplasia and intrauterine infections.

TL;DR: A series of Italian patients selected through a multicenter study for specific neurological phenotypes underwent DNA sequencing of the VPS13A and XK genes to search for causative mutations as discussed by the authors.

TL;DR: Fingolimod reduces clinical and radiological inflammation in MS and limits the clinical expression of new Gd + lesions, possibly reducing local inflammatory processes and improving brain network plasticity in patients with suboptimal response to IFNβ-1a.