Treatment of Charcot-Marie-Tooth Disease

…TIMESLOT: October 12th 2023 at 16:00 Paris Time

…THEME: Treatment of Charcot-Marie-Tooth

…PRESENTER: Dr. Davide Pareyson (Fondazione IRCCS, Istituto Neurologico C.Besta, Italy)

…BIOSKETCH:

Davide Pareyson is a Clinical Neurologist working at the Fondazione IRCCS Istituto Neurologico C.Besta (INCB) of Milan, Italy, where he is currently Head of the Rare Neurological Diseases Unit; he is also Chief of the Functional Department of Neurodegenerative and Rare Neurological Diseases.

His main interest is clinical research on hereditary and acquired peripheral neuropathies and motor neuronopathies, inherited neurological disorders, rare diseases. He performed studies on phenotype-genotype correlation, clinical findings, electrophysiology, neuropathology (including skin nerve biopsies) of hereditary neuropathies (particularly Charcot-Marie-Tooth disease – CMT – and related neuropathies, but also amyloid neuropathy) and other neurogenetic disorders including spinal and bulbar muscle atrophy (SBMA), hereditary spastic paraplegias, hereditary ataxias, genetic leukodystrophies. He has been performing studies on pathomechanisms of late-onset axonal neuropathies related to MPZ mutations.

He has been working on the development of outcome measures for hereditary neuropathies and other rare diseases and has coordinated and participated in clinical trials and natural history studies in inherited and acquired neuropathies.

He is the Coordinator of the Italian National Registries of Charcot-Marie-Tooth disease and of Spino-Bulbar Muscular Atrophy (www.registronmd.it), and participated as local PI in the TTR-related amyloidosis Italian National Registry.

He has co-authored 298 papers on peer-reviewed Journals (Pubmed) mainly on hereditary disorders and neuromuscular diseases. H-index = 51 (Scopus).