RT Journal Article
SR Electronic
T1 Facial Onset Sensory and Motor Neuronopathy
JF Neurology: Clinical Practice
FD Lippincott Williams & Wilkins
SP 147
OP 157
DO 10.1212/CPJ.0000000000000834
VO 11
IS 2
A1 Eva M.J. de Boer
A1 Andrew W. Barritt
A1 Marwa Elamin
A1 Stuart J. Anderson
A1 Rebecca Broad
A1 Angus Nisbet
A1 H. Stephan Goedee
A1 Juan F. Vázquez Costa
A1 Johannes Prudlo
A1 Christian A. Vedeler
A1 Julio Pardo Fernandez
A1 Mónica Povedano Panades
A1 Maria A. Albertí Aguilo
A1 Eleonora Dalla Bella
A1 Giuseppe Lauria
A1 Wladimir B.V.R. Pinto
A1 Paulo V.S. de Souza
A1 Acary S.B. Oliveira
A1 Camilo Toro
A1 Joost van Iersel
A1 Malu Parson
A1 Oliver Harschnitz
A1 Leonard H. van den Berg
A1 Jan H. Veldink
A1 Ammar Al-Chalabi
A1 Peter N. Leigh
A1 Michael A. van Es
YR 2021
UL http://cp.neurology.org/content/11/2/147.abstract
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.