1. Facial Onset Sensory and Motor Neuronopathy
- Author
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Stuart J. Anderson, Jan H. Veldink, Ammar Al-Chalabi, Malu Parson, Johannes Prudlo, Joost van Iersel, Camilo Toro, Christian A. Vedeler, Juan F. Vázquez Costa, H. Stephan Goedee, Paulo Victor Sgobbi de Souza, Marwa Elamin, Wladimir Bocca Vieira de Rezende Pinto, Angus Nisbet, Michael A. van Es, Eva M.J. de Boer, Acary Souza Bulle Oliveira, Julio Pardo Fernandez, Rebecca Broad, Leonard H. van den Berg, Maria A. Albertí Aguilo, Eleonora Dalla Bella, Peter Leigh, Mónica Povedano Panades, Giuseppe Lauria, Andrew W Barritt, and Oliver Harschnitz
- Subjects
0301 basic medicine ,business.industry ,Autoantibody ,Cognition ,Chorea ,Sensory system ,medicine.disease ,Pathophysiology ,Natural history ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,mental disorders ,medicine ,ddc:610 ,Neurology (clinical) ,medicine.symptom ,business ,Neuroscience ,030217 neurology & neurosurgery ,Frontotemporal dementia ,Rare disease - Abstract
Purpose of ReviewTo improve our clinical understanding of facial onset sensory and motor neuronopathy (FOSMN).Recent FindingsWe 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.SummaryFOSMN 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.
- Published
- 2020
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