Back to Search
Start Over
Facial Onset Sensory and Motor Neuronopathy
- Source :
- Neurology: Clinical Practice, article-version (Version of Record) 3, Dipòsit Digital de la UB, Universidad de Barcelona
- Publication Year :
- 2021
- Publisher :
- Lippincott Williams & Wilkins, 2021.
-
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.
Details
- Language :
- English
- ISSN :
- 21630933 and 21630402
- Volume :
- 11
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Neurology: Clinical Practice
- Accession number :
- edsair.pmid.dedup....ede3bd6b7b021581a47550c1f8c1847c