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Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations

dc.rights.licenseopenen_US
dc.contributor.authorMEREAUX, Jean-Loup
dc.contributor.authorFIRANESCU, Cristina
dc.contributor.authorCOARELLI, Giulia
dc.contributor.authorKVARNUNG, Malin
dc.contributor.authorRODRIGUES, Rita
dc.contributor.authorPEGORARO, Elena
dc.contributor.authorTAZIR, Meriem
dc.contributor.authorTAITHE, Frederic
dc.contributor.authorVALTER, Remi
dc.contributor.authorHUIN, Vincent
dc.contributor.authorLIDSTROM, Kristina
dc.contributor.authorBANNEAU, Guillaume
dc.contributor.authorMORAIS, Sara
dc.contributor.authorPARODI, Livia
dc.contributor.authorCOUTELIER, Marie
dc.contributor.authorPAPIN, Melanie
dc.contributor.authorSVENNINGSSON, Per
dc.contributor.authorAZULAY, Jean-Philippe
dc.contributor.authorALONSO, Isabel
dc.contributor.authorNILSSON, Daniel
dc.contributor.authorBRICE, Alexis
dc.contributor.authorLE GUERN, Eric
dc.contributor.authorPRESS, Rayomand
dc.contributor.authorVAZZA, Giovanni
dc.contributor.authorLOUREIRO, Jose Leal
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorGOIZET, Cyril
dc.contributor.authorDURR, Alexandra
dc.contributor.authorPAUCAR, Martin
dc.contributor.authorSTEVANIN, Giovanni
dc.date.accessioned2021-10-26T14:52:49Z
dc.date.available2021-10-26T14:52:49Z
dc.date.issued2021-01-23
dc.identifier.issn364-6745 (print) 1364-6753 (online)en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/117081
dc.description.abstractEnSpastic 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.sponsorshipIdentification of new causative genes in spinocerebellar degenerations by combination of whole genome scan, next-generation sequencing and biological validation in vitro and in vivoen_US
dc.description.sponsorshipInfrastructure de Recherche Translationnelle pour les Biothérapies en Neurosciencesen_US
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subject.enCAPN1
dc.subject.enCerebellar ataxia
dc.subject.enNeurodegeneration
dc.subject.enSpastic ataxia
dc.subject.enSpastic paraplegia
dc.title.enIncreasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations
dc.typeArticle de revueen_US
dc.identifier.doi10.1007/s10048-020-00633-2en_US
dc.subject.halSciences du Vivant [q-bio]/Médecine humaine et pathologieen_US
dc.identifier.pubmed33486633en_US
dc.description.sponsorshipEuropeEuropean Union’s Horizon 2020 research and innovation programmeen_US
bordeaux.journalneurogeneticsen_US
bordeaux.page71-79en_US
bordeaux.volume22en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue1en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.identifier.funderIDAgence Nationale de la Rechercheen_US
bordeaux.identifier.funderIDFonds De La Recherche Scientifique - FNRSen_US
hal.exportfalse
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=neurogenetics&rft.date=2021-01-23&rft.volume=22&rft.issue=1&rft.spage=71-79&rft.epage=71-79&rft.eissn=364-6745%20(print)%201364-6753%20(online)&rft.issn=364-6745%20(print)%201364-6753%20(online)&rft.au=MEREAUX,%20Jean-Loup&FIRANESCU,%20Cristina&COARELLI,%20Giulia&KVARNUNG,%20Malin&RODRIGUES,%20Rita&rft.genre=article


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