Facial Onset Sensory and Motor Neuronopathy : New Cases, Cognitive Changes, and Pathophysiology

Media type: E-Article
Title: Facial Onset Sensory and Motor Neuronopathy : New Cases, Cognitive Changes, and Pathophysiology : New Cases, Cognitive Changes, and Pathophysiology
Contributor: 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.; [...]
Published: Ovid Technologies (Wolters Kluwer Health), 2021
Published in: Neurology: Clinical Practice
Extent: 147-157
Language: English
DOI: 10.1212/cpj.0000000000000834
ISSN: 2163-0402; 2163-0933
Keywords: Neurology (clinical)
Abstract: <jats:sec><jats:title>Purpose of Review</jats:title><jats:p>To improve our clinical understanding of facial onset sensory and motor neuronopathy (FOSMN).</jats:p></jats:sec><jats:sec><jats:title>Recent Findings</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Summary</jats:title><jats:p>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.</jats:p></jats:sec>
Description: <jats:sec><jats:title>Purpose of Review</jats:title><jats:p>To improve our clinical understanding of facial onset sensory and motor neuronopathy (FOSMN).</jats:p></jats:sec><jats:sec><jats:title>Recent Findings</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Summary</jats:title><jats:p>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.</jats:p></jats:sec>
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Access State: Open Access

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