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http://hdl.handle.net/2445/158298
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DC Field | Value | Language |
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dc.contributor.author | Fernández Eulate, Gorka | - |
dc.contributor.author | Fernández Torrón, Roberto | - |
dc.contributor.author | Guisasola, Amaia | - |
dc.contributor.author | Iglesias Gaspar, Maria Teresa | - |
dc.contributor.author | Diaz Manera, Jordi | - |
dc.contributor.author | Maneiro, Miren | - |
dc.contributor.author | Zulaica, Miren | - |
dc.contributor.author | Olasagasti, Vicente | - |
dc.contributor.author | Formica, Alejandro Francisco | - |
dc.contributor.author | Espinal, Juan Bautista | - |
dc.contributor.author | Ruiz, Montserrat | - |
dc.contributor.author | Schlüter, Agatha | - |
dc.contributor.author | Pujol Onofre, Aurora | - |
dc.contributor.author | Poza, Juan José | - |
dc.contributor.author | López de Munain, Adolfo | - |
dc.date.accessioned | 2020-05-01T12:04:57Z | - |
dc.date.available | 2021-04-22T05:10:21Z | - |
dc.date.issued | 2020-04-22 | - |
dc.identifier.uri | http://hdl.handle.net/2445/158298 | - |
dc.description.abstract | Background: BSCL2 heterozygote mutations are a common cause of distal hereditary motor neuropathies (dHMN). We present a series of BSCL2 patients and correlate clinical, neurophysiological and muscle-MRI findings. Methods: 26 patients from 5 families carrying the p.N88S mutation were ascertained. Age of onset, clinical phenotype (dHMN, Charcot-Marie-Tooth/CMT, spastic paraplegia), physical examination, disability measured as modified Rankin score (mRS) and neurophysiological findings were collected. A whole body muscle-MRI had been performed in 18 patients. We analyzed the pattern of muscle involvement on T1-weighted and STIR sequences. Hierarchical analysis using heatmaps and a MRI Composite Score (MRI CS) were generated. Statistical analysis was carried out with STATA SE v.15. Results Mean age was 51.54+/-19.94 years and 14 patients were males. dHMN was the most common phenotype (50%) and 5 patients (19.23%) showed no findings on examination. Disease onset was commonly in childhood and disability was low (mRS=1.34+/-1.13) although median time since onset of disease was 32 years (range=10-47). CMT-like patients were more disabled and disability correlated with age. On muscle-MRI, thenar eminence, soleus and tibialis anterior were most frequently involved, irrespective of clinical phenotype. MRI CS was strongly correlated with disability. Conclusion: Patients with the p.N88S BSCL2 gene mutation are phenotypically variable, although dHMN is most frequent and generally slowly progressive. Muscle-MRI pattern is consistent regardless of phenotype and correlates with disease severity, probably serving as a reliable outcome measure for future clinical trials. | ca |
dc.format.extent | 20 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | ca |
dc.publisher | Wiley | ca |
dc.relation.isformatof | Versió posprint del document publicat a: https://doi.org/10.1111/ene.14272 | - |
dc.relation.ispartof | European Journal of Neurology, 2020 | - |
dc.relation.uri | https://doi.org/10.1111/ene.14272 | - |
dc.rights | (c) European Academy of Neurology, 2020 | - |
dc.source | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) | - |
dc.subject.classification | Malalties neuromusculars | - |
dc.subject.classification | Malalties del sistema nerviós | - |
dc.subject.other | Neuromuscular diseases | - |
dc.subject.other | Nervous system Diseases | - |
dc.title | Phenotypic correlations in a large single center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle MRI study | ca |
dc.type | info:eu-repo/semantics/article | ca |
dc.type | info:eu-repo/semantics/acceptedVersion | - |
dc.date.updated | 2020-04-30T10:29:29Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
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2020-Fernandez Eulate_BSCL2_Eur J Neurol.pdf | 2.26 MB | Adobe PDF | View/Open |
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