Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/178994
Title: | Facial Onset Sensory and Motor Neuronopathy |
Author: | De Boer, Eva M.J. Barritt, Andrew W. Elamin, Marwa Anderson, Stuart J. Broad, Rebecca Nisbet, Angus Goedee, H. Stephan Vázquez Costa, Juan F. Prudlo, Johannes Vedeler, Christian A. Pardo Fernandez, Julio Povedano Panades, Mónica Albertí Aguilo, Maria A. Bella, Eleonora Dalla Lauria, Giuseppe Pinto, Wladimir B.V.R. De Souza, Paulo V.S. Oliveira, Acary S.B. Toro, Camilo Van Iersel, Joost Parson, Malu Harschnitz, Oliver Van Den Berg, Leonard H. Veldink, Jan H. Al-Chalabi, Ammar Leigh, Peter N. Van Es, Michael A. |
Keywords: | Malalties rares Malalties neurodegeneratives Malalties autoimmunitàries Rare diseases Neurodegenerative Diseases Autoimmune diseases |
Issue Date: | 8-Apr-2020 |
Publisher: | Ovid Technologies (Wolters Kluwer Health) |
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. |
Note: | Reproducció del document publicat a: https://doi.org/10.1212/CPJ.0000000000000834 |
It is part of: | Neurology: Clinical Practice, 2020, vol. 11, num. 2, p. 147-157 |
URI: | http://hdl.handle.net/2445/178994 |
Related resource: | https://doi.org/10.1212/CPJ.0000000000000834 |
ISSN: | 2163-0933 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
CPJ.0000000000000834.full.pdf | 660.45 kB | Adobe PDF | View/Open |
This item is licensed under a
Creative Commons License