PT  - JOURNAL ARTICLE
AU  - Eva M.J. de Boer
AU  - Andrew W. Barritt
AU  - Marwa Elamin
AU  - Stuart J. Anderson
AU  - Rebecca Broad
AU  - Angus Nisbet
AU  - H. Stephan Goedee
AU  - Juan F. Vázquez Costa
AU  - Johannes Prudlo
AU  - Christian A. Vedeler
AU  - Julio Pardo Fernandez
AU  - Mónica Povedano Panades
AU  - Maria A. Albertí Aguilo
AU  - Eleonora Dalla Bella
AU  - Giuseppe Lauria
AU  - Wladimir B.V.R. Pinto
AU  - Paulo V.S. de Souza
AU  - Acary S.B. Oliveira
AU  - Camilo Toro
AU  - Joost van Iersel
AU  - Malu Parson
AU  - Oliver Harschnitz
AU  - Leonard H. van den Berg
AU  - Jan H. Veldink
AU  - Ammar Al-Chalabi
AU  - Peter N. Leigh
AU  - Michael A. van Es
TI  - Facial Onset Sensory and Motor Neuronopathy
AID  - 10.1212/CPJ.0000000000000834
DP  - 2021 Apr 01
TA  - Neurology: Clinical Practice
PG  - 147--157
VI  - 11
IP  - 2
4099  - http://cp.neurology.org/content/11/2/147.short
4100  - http://cp.neurology.org/content/11/2/147.full
AB  - 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.