Purpose of review To improve our clinical understanding of facial onset sensory and motor neuronopathy (FOSMN). Recent findings We identified 29 new cases and 71 literature cases, resulting in a cohort of 100 patients with FOSMN. During follow-up, cognitive and behavioral changes became apparent in 8 patients, suggesting that changes within the spectrum of frontotemporal dementia (FTD) are a part of the natural history of FOSMN. Another new finding was chorea, seen in 6 cases. Despite reports of autoantibodies, there is no consistent evidence to suggest an autoimmune pathogenesis. Four of 6 autopsies had TAR DNA-binding protein (TDP) 43 pathology. Seven cases had genetic mutations associated with neurodegenerative diseases. Summary FOSMN is a rare disease with a highly characteristic onset and pattern of disease progression involving initial sensory disturbances, followed by bulbar weakness with a cranial to caudal spread of pathology. Although not conclusive, the balance of evidence suggests that FOSMN is most likely to be a TDP-43 proteinopathy within the amyotrophic lateral sclerosis–FTD spectrum.
Facial onset sensory and motor neuronopathy : new cases, cognitive changes, and pathophysiology / E.M.J. de Boer, A.W. Barritt, M. Elamin, S.J. Anderson, R. Broad, A. Nisbet, H.S. Goedee, J.F. Vázquez Costa, J. Prudlo, C.A. Vedeler, J.P. Fernandez, M.P. Panades, M.A. Albertí Aguilo, E.D. Bella, G. Lauria, W.B.V.R. Pinto, P.V.S. de Souza, A.S.B. Oliveira, C. Toro, J. van Iersel, M. Parson, O. Harschnitz, L.H. van den Berg, J.H. Veldink, A. Al-Chalabi, P.N. Leigh, M.A. van Es. - In: NEUROLOGY. CLINICAL PRACTICE. - ISSN 2163-0402. - 11:2(2021 Apr 08), pp. 147-157.
|Titolo:||Facial onset sensory and motor neuronopathy : new cases, cognitive changes, and pathophysiology|
|Settore Scientifico Disciplinare:||Settore MED/26 - Neurologia|
|Data di pubblicazione:||8-apr-2021|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1212/CPJ.0000000000000834|
|Appare nelle tipologie:||01 - Articolo su periodico|
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