Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/178994
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | De Boer, Eva M.J. | - |
dc.contributor.author | Barritt, Andrew W. | - |
dc.contributor.author | Elamin, Marwa | - |
dc.contributor.author | Anderson, Stuart J. | - |
dc.contributor.author | Broad, Rebecca | - |
dc.contributor.author | Nisbet, Angus | - |
dc.contributor.author | Goedee, H. Stephan | - |
dc.contributor.author | Vázquez Costa, Juan F. | - |
dc.contributor.author | Prudlo, Johannes | - |
dc.contributor.author | Vedeler, Christian A. | - |
dc.contributor.author | Pardo Fernandez, Julio | - |
dc.contributor.author | Povedano Panades, Mónica | - |
dc.contributor.author | Albertí Aguilo, Maria A. | - |
dc.contributor.author | Bella, Eleonora Dalla | - |
dc.contributor.author | Lauria, Giuseppe | - |
dc.contributor.author | Pinto, Wladimir B.V.R. | - |
dc.contributor.author | De Souza, Paulo V.S. | - |
dc.contributor.author | Oliveira, Acary S.B. | - |
dc.contributor.author | Toro, Camilo | - |
dc.contributor.author | Van Iersel, Joost | - |
dc.contributor.author | Parson, Malu | - |
dc.contributor.author | Harschnitz, Oliver | - |
dc.contributor.author | Van Den Berg, Leonard H. | - |
dc.contributor.author | Veldink, Jan H. | - |
dc.contributor.author | Al-Chalabi, Ammar | - |
dc.contributor.author | Leigh, Peter N. | - |
dc.contributor.author | Van Es, Michael A. | - |
dc.date.accessioned | 2021-07-12T10:45:08Z | - |
dc.date.available | 2021-07-12T10:45:08Z | - |
dc.date.issued | 2020-04-08 | - |
dc.identifier.issn | 2163-0933 | - |
dc.identifier.uri | http://hdl.handle.net/2445/178994 | - |
dc.description.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. | - |
dc.format.extent | 12 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Ovid Technologies (Wolters Kluwer Health) | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1212/CPJ.0000000000000834 | - |
dc.relation.ispartof | Neurology: Clinical Practice, 2020, vol. 11, num. 2, p. 147-157 | - |
dc.relation.uri | https://doi.org/10.1212/CPJ.0000000000000834 | - |
dc.rights | cc by (c) De Boer, Eva M.J. et al., 2020 | - |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | * |
dc.source | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) | - |
dc.subject.classification | Malalties rares | - |
dc.subject.classification | Malalties neurodegeneratives | - |
dc.subject.classification | Malalties autoimmunitàries | - |
dc.subject.other | Rare diseases | - |
dc.subject.other | Neurodegenerative Diseases | - |
dc.subject.other | Autoimmune diseases | - |
dc.title | Facial Onset Sensory and Motor Neuronopathy | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.date.updated | 2021-07-09T09:26:59Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 33842068 | - |
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