Facial Onset Sensory and Motor Neuronopathy: New Cases, Cognitive Changes, and Pathophysiology.
Journal
Neurology. Clinical practice
ISSN: 2163-0402
Titre abrégé: Neurol Clin Pract
Pays: United States
ID NLM: 101577149
Informations de publication
Date de publication:
Apr 2021
Apr 2021
Historique:
entrez:
12
4
2021
pubmed:
13
4
2021
medline:
13
4
2021
Statut:
ppublish
Résumé
To improve our clinical understanding of facial onset sensory and motor neuronopathy (FOSMN). 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. 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.
Identifiants
pubmed: 33842068
doi: 10.1212/CPJ.0000000000000834
pii: NEURCLINPRACT2019046953
pmc: PMC8032419
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
147-157Subventions
Organisme : Medical Research Council
ID : MR/L501529/1
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Organisme : Motor Neurone Disease Association
ID : ALCHALABI-TALBOT/APR14/926-794
Pays : United Kingdom
Organisme : Motor Neurone Disease Association
ID : ALCHALABI-DOBSON/APR14/829-791
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0600974
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/R024804/1
Pays : United Kingdom
Informations de copyright
Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
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