Shedding light on motor premanifest myotonic dystrophy type 1: A molecular, muscular and central nervous system follow-up study
dc.contributor.author | Garmendia Zaldua, Joana | |
dc.contributor.author | Labayru Isusquiza, Garazi | |
dc.contributor.author | Zulaica Ijurco, Miren | |
dc.contributor.author | Villanua Bernues, Jorge Alberto | |
dc.contributor.author | López de Munain Arregui, Adolfo José | |
dc.contributor.author | Sistiaga Berrondo, Andone | |
dc.date.accessioned | 2023-04-05T18:02:42Z | |
dc.date.available | 2023-04-05T18:02:42Z | |
dc.date.issued | 2023-01 | |
dc.identifier.citation | European Journal of Neurology 30(1) : 215-223 (2023) | es_ES |
dc.identifier.issn | 1468-1331 | |
dc.identifier.uri | http://hdl.handle.net/10810/60629 | |
dc.description.abstract | Background and purpose Myotonic dystrophy type 1 (DM1) is a hereditary and multisystemic disease that is characterized by heterogeneous manifestations. Although muscular impairment is central to DM1, a premanifest DM1 form has been proposed for those characterized by the absence of muscle signs in precursory phases. Nevertheless, subtle signs and/or symptoms related to other systems, such as the central nervous system (CNS), may emerge and progress gradually. This study aimed to validate the premanifest DM1 concept and to characterize and track affected individuals from a CNS centred perspective. Methods Retrospective data of 120 participants (23 premanifest DM1, 25 manifest DM1 and 72 healthy controls) were analysed transversally and longitudinally (over 11.17 years). Compiled data included clinical, neuropsychological and neuroradiological (brain volume and white matter lesion, WML) measures taken at two time points. Results Manifest DM1 showed significantly more molecular affectation, worse performance on neuropsychological domains, lower grey and white matter volumes and a different pattern of WMLs than premanifest DM1. The latter was slightly different from healthy controls regarding brain volume and WMLs. Additionally, daytime sleepiness and molecular expansion size explained 50% of the variance of the muscular deterioration at follow-up in premanifest individuals. Conclusions Premanifest DM1 individuals showed subtle neuroradiological alterations, which suggests CNS involvement early in the disease. Based on follow-up data, a debate emerges around the existence of a ‘non-muscular DM1’ subtype and/or a premanifest phase, as a precursory stage to other DM1 manifestations. | es_ES |
dc.description.sponsorship | This work was supported by the Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (Ref: 609), from the Institute of Health Carlos III co-founded by Fondo Europeo de Desarrollo Regional (PI17/01231 to A.S.; PI17/01841 to A.L.); Basque Government (S-PE13UN030 to A.S.); and University of the Basque Country (UPV/EHU) (PIF 20/238 to J.G.; GU 20/057 to J.G., G.L. and A.S.). | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Wiley | es_ES |
dc.rights | info:eu-repo/semantics/openAccess | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/es/ | * |
dc.title | Shedding light on motor premanifest myotonic dystrophy type 1: A molecular, muscular and central nervous system follow-up study | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.rights.holder | © 2022 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. | es_ES |
dc.rights.holder | Atribución-NoComercial-SinDerivadas 3.0 España | * |
dc.relation.publisherversion | https://onlinelibrary.wiley.com/doi/full/10.1111/ene.15604 | es_ES |
dc.identifier.doi | 10.1111/ene.15604 | |
dc.departamentoes | Psicología Clínica y de la Salud y Metodología de Investigación | es_ES |
dc.departamentoes | Neurociencias | es_ES |
dc.departamentoeu | Psikologia Klinikoa eta Osasunaren Psikologia eta Ikerketa Metodologia | es_ES |
dc.departamentoeu | Neurozientziak | es_ES |
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Except where otherwise noted, this item's license is described as © 2022 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.
This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.