Please use this identifier to cite or link to this item:
https://hdl.handle.net/10316/114142
DC Field | Value | Language |
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dc.contributor.author | Hengel, Holger | - |
dc.contributor.author | Martus, Peter | - |
dc.contributor.author | Faber, Jennifer | - |
dc.contributor.author | Giunit, Paola | - |
dc.contributor.author | Garcia-Moreno, Hector | - |
dc.contributor.author | Solanky, Nita | - |
dc.contributor.author | Klockgether, Thomas | - |
dc.contributor.author | Reetz, Kathrin | - |
dc.contributor.author | van de Warrenburg, Bart P. | - |
dc.contributor.author | Santana, Magda M. | - |
dc.contributor.author | Silva, Patrick Joel da | - |
dc.contributor.author | Cunha, Inês | - |
dc.contributor.author | Almeida, Luís Pereira de | - |
dc.contributor.author | Timmann, Dagmar | - |
dc.contributor.author | Infante, Jon | - |
dc.contributor.author | de Vries, Jeroen | - |
dc.contributor.author | Lima, Manuela | - |
dc.contributor.author | Pires, Paula | - |
dc.contributor.author | Bushara, Khalaf | - |
dc.contributor.author | Jacobi, Heike | - |
dc.contributor.author | Onyike, Chiadi | - |
dc.contributor.author | Schmahmann, Jeremy D. | - |
dc.contributor.author | Hübener-Schmid, Jeannette | - |
dc.contributor.author | Synofzik, Matthis | - |
dc.contributor.author | Schöls, Ludger | - |
dc.date.accessioned | 2024-03-21T11:26:42Z | - |
dc.date.available | 2024-03-21T11:26:42Z | - |
dc.date.issued | 2023-02 | - |
dc.identifier.issn | 0340-5354 | pt |
dc.identifier.issn | 1432-1459 | pt |
dc.identifier.uri | https://hdl.handle.net/10316/114142 | - |
dc.description.abstract | Background Non-motor symptoms (NMS) are a substantial burden for patients with SCA3. There are limited data on their frequency, and their relation with disease severity and activities of daily living is not clear. In addition, lifestyle may either influence or be affected by the occurrence of NMS. Objective To characterize NMS in SCA3 and investigate possible associations with disease severity and lifestyle factors. Methods In a prospective cohort study, we performed a cross-sectional analysis of NMS in 227 SCA3 patients, 42 pre-ataxic mutation carriers, and 112 controls and tested for associations with SARA score, activities of daily living, and the lifestyle factors alcohol consumption, smoking and physical activity. Results Sleep disturbance, restless legs syndrome, mild cognitive impairment, depression, bladder dysfunction and pallhypesthesia were frequent among SCA3 patients, while mainly absent in pre-ataxic mutation carriers. Except for restless legs syndrome, NMS correlated significantly with disease severity and activities of daily living. Alcohol abstinence was associated with bladder dysfunction. Patients with higher physical activity showed less cognitive impairment and fewer depressive symptoms, but these differences were not significant. Conclusion This study revealed a clear association between disease severity and NMS, likely driven by the progression of the widespread neurodegenerative process. Associations between lifestyle and NMS can probably be attributed to the influence of NMS on lifestyle. | pt |
dc.description.sponsorship | This publication is an outcome of ESMI, an EU Joint Programme— Neurodegenerative Disease Research (JPND) project (see www. jpnd. eu). The project was supported through the following funding organizations under the aegis of JPND: Germany, Federal Ministry of Education and Research (BMBF; funding codes 01ED1602A/B); Netherlands, The Netherlands Organisation for Health Research and Development; Portugal, Foundation for Science and Technology (FCT); United Kingdom, Medical Research Council. This project has received funding from the European Union’s Horizon 2020 research and innovation program under grant agreement No 643417. H.H. was supported by the Deutsche Forschungsgemeinschaft (DFG, HE 8803/1–1). At the US sites, this work was in part supported by the National Ataxia Foundation and the National Institute of Neurological Disorders and Stroke (NINDS) grant R01 NS080816. Several authors are members of the European Reference Network for Rare Neurological Diseases—Project No 739510. Bart van de Warrenburg receives research support from ZonMw, Hersenstichting, Gossweiler Foundation, and Radboud university medical center, receives royalties from BSL – Springer Nature, and has served on scientific advisory boards of uniQure and Servier. Jeremy D. Schmahmann is inventor of the CCAS/ Schmahmann Scale, the PROM-Ataxia, Brief Ataxia Rating Scale, and Cerebellar Neuropsychiatric Rating Scale to which the General Hospital Corporation holds the copyright. He consults for Biogen and Medavante, receives support from Biohaven and the National Ataxia Foundation, is site PI for Biohaven NCT03952806 and NCT03701399, and receives royalties from Elsevier, MacKeith, Oxford, and Springer. Matthis Synofzik has received consultancy honoraria from Janssen Pharmaceuticals, Ionis Pharmaceuticals, Orphazyme Pharmaceuticals and AviadoBio, all unrelated to the present manuscript. | pt |
dc.language.iso | eng | pt |
dc.publisher | Springer Nature | pt |
dc.rights | openAccess | pt |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | pt |
dc.subject | SCA3 | pt |
dc.subject | Non-motor symptoms | pt |
dc.subject | Lifestyle | pt |
dc.subject | Physical activity | pt |
dc.subject.mesh | Humans | pt |
dc.subject.mesh | Prospective Studies | pt |
dc.subject.mesh | Cross-Sectional Studies | pt |
dc.subject.mesh | Activities of Daily Living | pt |
dc.subject.mesh | Patient Acuity | pt |
dc.subject.mesh | Life Style | pt |
dc.subject.mesh | Restless Legs Syndrome | pt |
dc.title | The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors | pt |
dc.type | article | - |
degois.publication.firstPage | 944 | pt |
degois.publication.lastPage | 952 | pt |
degois.publication.issue | 2 | pt |
degois.publication.title | Journal of Neurology | pt |
dc.peerreviewed | yes | pt |
dc.identifier.doi | 10.1007/s00415-022-11441-z | pt |
degois.publication.volume | 270 | pt |
dc.date.embargo | 2023-02-01 | * |
uc.date.periodoEmbargo | 0 | pt |
item.grantfulltext | open | - |
item.fulltext | Com Texto completo | - |
item.openairetype | article | - |
item.languageiso639-1 | en | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.cerifentitytype | Publications | - |
crisitem.author.researchunit | CNC - Center for Neuroscience and Cell Biology | - |
crisitem.author.researchunit | CNC - Center for Neuroscience and Cell Biology | - |
crisitem.author.researchunit | CIBB - Center for Innovative Biomedicine and Biotechnology | - |
crisitem.author.orcid | 0000-0001-5831-3307 | - |
Appears in Collections: | I&D CIBB - Artigos em Revistas Internacionais I&D CNC - Artigos em Revistas Internacionais FFUC- Artigos em Revistas Internacionais |
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