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Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations
dc.rights.license | open | en_US |
dc.contributor.author | MEREAUX, Jean-Loup | |
dc.contributor.author | FIRANESCU, Cristina | |
dc.contributor.author | COARELLI, Giulia | |
dc.contributor.author | KVARNUNG, Malin | |
dc.contributor.author | RODRIGUES, Rita | |
dc.contributor.author | PEGORARO, Elena | |
dc.contributor.author | TAZIR, Meriem | |
dc.contributor.author | TAITHE, Frederic | |
dc.contributor.author | VALTER, Remi | |
dc.contributor.author | HUIN, Vincent | |
dc.contributor.author | LIDSTROM, Kristina | |
dc.contributor.author | BANNEAU, Guillaume | |
dc.contributor.author | MORAIS, Sara | |
dc.contributor.author | PARODI, Livia | |
dc.contributor.author | COUTELIER, Marie | |
dc.contributor.author | PAPIN, Melanie | |
dc.contributor.author | SVENNINGSSON, Per | |
dc.contributor.author | AZULAY, Jean-Philippe | |
dc.contributor.author | ALONSO, Isabel | |
dc.contributor.author | NILSSON, Daniel | |
dc.contributor.author | BRICE, Alexis | |
dc.contributor.author | LE GUERN, Eric | |
dc.contributor.author | PRESS, Rayomand | |
dc.contributor.author | VAZZA, Giovanni | |
dc.contributor.author | LOUREIRO, Jose Leal | |
hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
dc.contributor.author | GOIZET, Cyril | |
dc.contributor.author | DURR, Alexandra | |
dc.contributor.author | PAUCAR, Martin | |
dc.contributor.author | STEVANIN, Giovanni | |
dc.date.accessioned | 2021-10-26T14:52:49Z | |
dc.date.available | 2021-10-26T14:52:49Z | |
dc.date.issued | 2021-01-23 | |
dc.identifier.issn | 364-6745 (print) 1364-6753 (online) | en_US |
dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/117081 | |
dc.description.abstractEn | Spastic ataxias are rare neurogenetic disorders involving spinocerebellar and pyramidal tracts. Many genes are involved. Among them, CAPN1, when mutated, is responsible for a complex inherited form of spastic paraplegia (SPG76). We report the largest published series of 21 novel patients with nine new CAPN1 disease-causing variants and their clinical characteristics from two European university hospitals (Paris and Stockholm). After a formal clinical examination, causative variants were identified by next-generation sequencing and confirmed by Sanger sequencing. CAPN1 variants are a rare cause (~ 1.4%) of young-adult-onset spastic ataxia; however, together with all published cases, they allowed us to better describe the clinical and genetic spectra of this form. Truncating variants are the most frequent, and missense variants lead to earlier age at onset in favor of an additional deleterious effect. Cerebellar ataxia with cerebellar atrophy, dysarthria and lower limb weakness are often associated with spasticity. We also suggest that cognitive impairment and depression should be assessed specifically in the follow-up of SPG76 cases. | |
dc.description.sponsorship | Identification of new causative genes in spinocerebellar degenerations by combination of whole genome scan, next-generation sequencing and biological validation in vitro and in vivo - ANR-13-ISV1-0002 | en_US |
dc.description.sponsorship | Infrastructure de Recherche Translationnelle pour les Biothérapies en Neurosciences | en_US |
dc.language.iso | EN | en_US |
dc.rights | Attribution 3.0 United States | * |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/us/ | * |
dc.subject.en | CAPN1 | |
dc.subject.en | Cerebellar ataxia | |
dc.subject.en | Neurodegeneration | |
dc.subject.en | Spastic ataxia | |
dc.subject.en | Spastic paraplegia | |
dc.title.en | Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations | |
dc.type | Article de revue | en_US |
dc.identifier.doi | 10.1007/s10048-020-00633-2 | en_US |
dc.subject.hal | Sciences du Vivant [q-bio]/Médecine humaine et pathologie | en_US |
dc.identifier.pubmed | 33486633 | en_US |
dc.description.sponsorshipEurope | European Union’s Horizon 2020 research and innovation programme | en_US |
bordeaux.journal | neurogenetics | en_US |
bordeaux.page | 71-79 | en_US |
bordeaux.volume | 22 | en_US |
bordeaux.hal.laboratories | Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 | en_US |
bordeaux.issue | 1 | en_US |
bordeaux.institution | Université de Bordeaux | en_US |
bordeaux.institution | INSERM | en_US |
bordeaux.peerReviewed | oui | en_US |
bordeaux.inpress | non | en_US |
bordeaux.identifier.funderID | Agence Nationale de la Recherche | en_US |
bordeaux.identifier.funderID | Fonds De La Recherche Scientifique - FNRS | en_US |
hal.export | false | |
dc.rights.cc | Pas de Licence CC | en_US |
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