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New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

dc.rights.licenseopenen_US
hal.structure.identifierUniversité de Bordeaux [UB]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorPILLIOD, Julie
hal.structure.identifierService de génétique médicale
hal.structure.identifierUniversité de Bordeaux [UB]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMOUTTON, Sebastien
hal.structure.identifierUniversité de Bordeaux [UB]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLAVIE, Julie
hal.structure.identifierUniversité de Bordeaux [UB]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMAURAT, Elise
hal.structure.identifierCentre Génomique Fonctionnelle Bordeaux [Bordeaux] [CGFB]
hal.structure.identifierUniversité de Bordeaux [UB]
hal.structure.identifierPlateforme Protéome [Bordeaux]
dc.contributor.authorHUBERT, Christophe
hal.structure.identifierUniversité de Bordeaux [UB]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorBELLANCE, Nadege
dc.contributor.authorANHEIM, Mathieu
dc.contributor.authorFORLANI, Sylvie
dc.contributor.authorMOCHEL, Fanny
dc.contributor.authorN'GUYEN, Karine
dc.contributor.authorTHAUVIN-ROBINET, Christel
dc.contributor.authorVERNY, Christophe
dc.contributor.authorMILEA, Dan
dc.contributor.authorLESCA, Gaëtan
dc.contributor.authorKOENIG, Michel
dc.contributor.authorRODRIGUEZ, Diana
dc.contributor.authorHOUCINAT, Nada
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorVAN-GILS, Julien
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorDURAND, Christelle M.
dc.contributor.authorGUICHET, Agnès
dc.contributor.authorBARTH, Magalie
dc.contributor.authorBONNEAU, Dominique
dc.contributor.authorCONVERS, Philippe
dc.contributor.authorMAILLART, Elisabeth
dc.contributor.authorGUYANT-MARECHAL, Lucie
dc.contributor.authorHANNEQUIN, Didier
dc.contributor.authorFROMAGER, Guillaume
dc.contributor.authorAFENJAR, Alexandra
dc.contributor.authorCHANTOT-BASTARAUD, Sandra
dc.contributor.authorVALENCE, Stéphanie
dc.contributor.authorCHARLES, Perrine
dc.contributor.authorBERQUIN, Patrick
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorROORYCK, Caroline
dc.contributor.authorBOURON, Julie
dc.contributor.authorBRICE, Alexis
hal.structure.identifierService de génétique médicale
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLACOMBE, Didier
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorROSSIGNOL, Rodrigue
dc.contributor.authorSTEVANIN, Giovanni
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorBENARD, Giovanni
dc.contributor.authorBURGLEN, Lydie
dc.contributor.authorDURR, Alexandra
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorGOIZET, Cyril
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorCOUPRY, Isabelle
dc.date.accessioned2024-12-06T17:49:16Z
dc.date.available2024-12-06T17:49:16Z
dc.date.issued2015-12-01
dc.identifier.issn1531-8249en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/203747
dc.description.abstractEnAutosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations in the SACS gene. SACS encodes sacsin, a protein whose function remains unknown, despite the description of numerous protein domains and the recent focus on its potential role in the regulation of mitochondrial physiology. This study aimed to identify new mutations in a large population of ataxic patients and to functionally analyze their cellular effects in the mitochondrial compartment. A total of 321 index patients with spastic ataxia selected from the SPATAX network were analyzed by direct sequencing of the SACS gene, and 156 patients from the ATAXIC project presenting with congenital ataxia were investigated either by targeted or whole exome sequencing. For functional analyses, primary cultures of fibroblasts were obtained from 11 patients carrying either mono- or biallelic variants, including 1 case harboring a large deletion encompassing the entire SACS gene. We identified biallelic SACS variants in 33 patients from SPATAX, and in 5 nonprogressive ataxia patients from ATAXIC. Moreover, a drastic and recurrent alteration of the mitochondrial network was observed in 10 of the 11 patients tested. Our results permit extension of the clinical and mutational spectrum of ARSACS patients. Moreover, we suggest that the observed mitochondrial network anomalies could be used as a trait biomarker for the diagnosis of ARSACS when SACS molecular results are difficult to interpret (ie, missense variants and heterozygous truncating variant). Based on our findings, we propose new diagnostic definitions for ARSACS using clinical, genetic, and cellular criteria.
dc.language.isoENen_US
dc.title.enNew practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
dc.title.alternativeAnn Neurolen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1002/ana.24509en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed26288984en_US
bordeaux.journalAnnals of Neurologyen_US
bordeaux.page871-86en_US
bordeaux.volume78en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue6en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exportfalse
workflow.import.sourcepubmed
dc.rights.ccPas de Licence CCen_US
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