Ilaria Bartolomei

TL;DR: CDMS is strongly associated with CCSVI, a scenario that has not previously been described, characterised by abnormal venous haemodynamics determined by extracranial multiple venous strictures of unknown origin.

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: PTA of venous strictures in patients with CCSVI is safe, and especially in patients in the RR group, the clinical course positively influenced clinical and QOL parameters of the associated MS compared with the preoperative assessment.

TL;DR: A significant impairment of cerebral venous drainage in patients affected by MS is demonstrated, a mechanism potentially related to increased iron stores, when compared to revised McDonald criteria as a gold standard of MS diagnosis.

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.