Facial Onset Sensory and Motor Neuronopathy: New Cases, Cognitive Changes, and Pathophysiology. Issue 2 (April 2021)

• Record Type: Journal Article
• Authors: de Boer, Eva M.J.; Barritt, Andrew W.; Elamin, Marwa; Anderson, Stuart J.; Broad, Rebecca; Nisbet, Angus; Goedee, H. Stephan; Vázquez Costa, Juan F.; Prudlo, Johannes; Vedeler, Christian A.; Fernandez, Julio Pardo; Panades, Mónica Povedano; Albertí Aguilo, Maria A.; Bella, Eleonora Dalla; Lauria, Giuseppe; Pinto, Wladimir B.V.R.; de Souza, Paulo V.S.; Oliveira, Acary S.B.; Toro, Camilo; van Iersel, Joost; Parson, Malu; Harschnitz, Oliver; van den Berg, Leonard H.; Veldink, Jan H.; Al-Chalabi, Ammar; Leigh, Peter N.; van Es, Michael A.
• Is Part Of: Neurology. Volume 11:Issue 2(2021)
• Publication Date: 2021-04
• Subjects: Nervous system -- Diseases -- Periodicals; Neurology -- Periodicals; Neurology -- United States -- Periodicals; 616.8
• DOI: 10.1212/CPJ.0000000000000834
• Languages: English
• ISSNs: 2163-0402

Abstract

Abstract : 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.