Facial onset sensory and motor neuronopathy: new cases, cognitive changes and pathophysiology

de Boer, Eva M G, Barritt, Andrew W, Elamin, Mara, 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, Leigh, Peter N and others, (2020) Facial onset sensory and motor neuronopathy: new cases, cognitive changes and pathophysiology. Neurology: Clinical Practice. ISSN 2163-0402

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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.

Item Type: Article
Schools and Departments: Brighton and Sussex Medical School > Neuroscience
SWORD Depositor: Mx Elements Account
Depositing User: Mx Elements Account
Date Deposited: 24 Apr 2020 07:40
Last Modified: 24 Apr 2020 07:45
URI: http://sro.sussex.ac.uk/id/eprint/91006

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