Dr. Ettore Salsano is an in-staff neurologist at the Division of Rare Neurodegenerative and Neurometabolic Diseases of the “C. Besta” Neurological Institute for Health Care and Research. He received his residency in neurology at the University of Milan. His main clinical interest is the diagnosis and therapy of adults with very rare or undiagnosed neurological diseases, especially leukodystrophies, genetic leukoencephalopathies and inherited neurometabolic diseases. He also deals with the study of eye movements by using non-invasive methods. He is the author and co-author of more than 60 articles in international peer-review journals, and he has worked as a reviewer for journals of clinical neurology and neuroscience. His h-index is 16 (Scopus – January 2019).
Clinical and genetic characterization of leukodystrophies in adults
- Track: Clinical Neuroscience
- 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.
- 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.
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