CURRICULUM
Il dr. Ettore Salsano è dirigente medico neurologo presso l’Unità Operativa Neurologia X – Malattie neurodegenerative e neuro-metaboliche rare della Fondazione IRCCS Istituto Neurologico “C. Besta”. Si è laureato e specializzato in neurologia presso l’Università degli Studi di Milano. Il suo principale interesse clinico è la diagnosi e la terapia dei soggetti affetti da malattie neurologiche ultra-rare e non diagnosticate dell’adulto e più in particolare dei soggetti affetti da leucodistrofie, leucoencefalopatie genetiche e malattie neuro-metaboliche. Si occupa inoltre di studio della motilità oculare con metodiche non invasive. È autore e co-autore di oltre 60 pubblicazioni e revisore per diverse riviste di neurologia clinica e neuroscienze. Ha un h-index di 16 (Scopus – gennaio 2019).
PROGETTO DI RICERCA
Clinical and genetic characterization of leukodystrophies in adults
- Curriculum: Neuroscienze Cliniche
- Tutor: Davide Pareyson
General aims of the project are the study of adult leukodystrophies (i.e., inherited white matter diseases) and their mimics, including their clinical and laboratory features, and their changes over the years. In fact, unlike in children, little is known about leukodystrophies and their genetic and acquired mimics in adults, although collectively these entities seem to occur with an incidence rivaling that of multiple sclerosis. Specifically, on the one hand, their etiology remains unknown in about 30-50% of cases, and on the other, new therapeutic strategies, including enzyme replacement and cell-based therapies, might hopefully improve the clinical outcome of defined entities, once considered untreatable, making their early diagnosis critical for early treatment. Specific aims of the project are therefore the identification of new disease-genes in the unclassifiable forms supposed to be of genetic origin, as well as the identification of key features for the rapid recognition of the defined forms, and the development of a protocol for their differential diagnosis, and their clinical and laboratory follow-up.
PUBBLICAZIONI RAPPRESENTATIVE
- Marelli C, Salsano E, Politi LS, Labauge P. Spinal cord involvement in adult-onset metabolic and genetic diseases. J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):211-218.
- Chiapparini L, Cavalli G, Langella T, Venerando A, De Luca G, Raspante S, Marotta G, Pollo B, Lauria G, Cangi MG, Gerevini S, Botturi A, Pareyson D, Dagna L, Salsano E. Adult leukoencephalopathies with prominent infratentorial involvement can be caused by Erdheim-Chester disease. J Neurol. 2018 Feb;265(2):273-284.
- Castellano A, Papinutto N, Cadioli M, Brugnara G, Iadanza A, Scigliuolo G, Pareyson D, Uziel G, Köhler W, Aubourg P, Falini A, Henry RG, Politi LS, Salsano E. Quantitative MRI of the spinal cord and brain in adrenomyeloneuropathy: in vivo assessment of structural changes. Brain. 2016 Jun;139(Pt 6):1735-46.
- Salsano E. Leukodystrophy or genetic leukoencephalopathy? Nature does not make leaps. Mol Genet Metab. 2015 Apr;114(4):491-3.
- Salsano E, Marotta G, Manfredi V, Giovagnoli AR, Farina L, Savoiardo M, Pareyson D, Benti R, Uziel G. Brain fluorodeoxyglucose PET in adrenoleukodystrophy. Neurology. 2014 Sep 9;83(11):981-9.
ALTRE INFO
Per la lista completa delle pubblicazioni visita Pubmed.