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Facial Onset Sensory and Motor Neuronopathy by Eva M.J. de Boer; Andrew W. Barritt; Marwa Elamin; Stuart J. Anderson; Rebecca Broad; Angus Nisbet; H. Stephan Goedee; Juan F. Vázquez Costa; Johannes Prudlo; Christian A. Vedeler; Julio Pardo Fernandez; Mónica Povedano Panades; Maria A. Albertí Aguilo; Eleonora Dalla Bella; Giuseppe Lauria; Wladimir B.V.R. Pinto; Paulo V.S. de Souza; Acary S.B. Oliveira; Camilo Toro; Joost van Iersel; Malu Parson; Oliver Harschnitz; Leonard H. van den Berg; Jan H. Veldink; Ammar Al-Chalabi; Peter N. Leigh; Michael A. van Es is a Medicine article available to read on EtoBox.

What is Facial Onset Sensory and Motor Neuronopathy about?

## 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.

Who reads Facial Onset Sensory and Motor Neuronopathy?

Author

Eva M.J. de Boer; Andrew W. Barritt; Marwa Elamin; Stuart J. Anderson; Rebecca Broad; Angus Nisbet; H. Stephan Goedee; Juan F. Vázquez Costa; Johannes Prudlo; Christian A. Vedeler; Julio Pardo Fernandez; Mónica Povedano Panades; Maria A. Albertí Aguilo; Eleonora Dalla Bella; Giuseppe Lauria; Wladimir B.V.R. Pinto; Paulo V.S. de Souza; Acary S.B. Oliveira; Camilo Toro; Joost van Iersel; Malu Parson; Oliver Harschnitz; Leonard H. van den Berg; Jan H. Veldink; Ammar Al-Chalabi; Peter N. Leigh; Michael A. van Es

Publisher

Ovid Technologies (Wolters Kluwer) - American Academy of Neurology; Lippincott Williams and Wilkins; Ovid Technologies (Wolters Kluwer Health); Springer Science and Business Media LLC (ISSN 2163-0402)

Published

2020

Language

EN

Field

Medicine (Health Sciences)