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From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

dc.rights.licenseopenen_US
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
dc.contributor.authorDEGOUTIN, Manon
hal.structure.identifierInstitut de Neurosciences cognitives et intégratives d'Aquitaine [INCIA]
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
dc.contributor.authorANGELINI, Chloe
hal.structure.identifierInstitut de Neurosciences cognitives et intégratives d'Aquitaine [INCIA]
hal.structure.identifierUniversité de Bordeaux [UB]
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
dc.contributor.authorBAR, Claire
dc.contributor.authorEL KHEDOUD, Wahiba Amer
dc.contributor.authorBARNERIAS, Christine
dc.contributor.authorBOULARIAH-HADJOU, Razika
dc.contributor.authorESTIAR, Mehrdad A
dc.contributor.authorEWENCZYK, Claire
dc.contributor.authorGAN-OR, Ziv
hal.structure.identifierHôpital Pellegrin
hal.structure.identifierService de génétique médicale
hal.structure.identifierChercheur indépendant
hal.structure.identifierUniversité de Bordeaux [UB]
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLACOMBE, Didier
dc.contributor.authorLEFEUVRE, Claire
dc.contributor.authorMAJETHIA, Purvi
dc.contributor.authorMESSAOUD-KHELIFI, Mouna
dc.contributor.authorNARAYANAN, Dhanya Lakshmi
dc.contributor.authorROULEAU, Guy A
dc.contributor.authorSUCHOWERSKY, Oksana
dc.contributor.authorSHUKLA, Anju
dc.contributor.authorGUILLAUD-BATAILLE, Marine
hal.structure.identifierInstitut de Neurosciences cognitives et intégratives d'Aquitaine [INCIA]
dc.contributor.authorSTEVANIN, Giovanni
hal.structure.identifierService de génétique médicale
hal.structure.identifierInstitut de Neurosciences cognitives et intégratives d'Aquitaine [INCIA]
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
dc.contributor.authorGOIZET, Cyril
dc.date.accessioned2025-01-28T09:58:41Z
dc.date.available2025-01-28T09:58:41Z
dc.date.issued2025-01-01
dc.identifier.issn1468-1331en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/204616
dc.description.abstractEnHeterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. However, there are very few descriptions in the literature of patients carrying biallelic variants in SPAST. Targeted Sanger sequencing, panel sequencing and exome sequencing were used to identify the genetic causes in 9 patients from 6 unrelated families with symptoms of HSP or infantile neurodegenerative disorder. We describe 5 patients with pure HSP with a variable age of onset, mostly in infancy, and 4 patients with profound intellectual disability and progressively worsening tetrapyramidal syndrome. The patients' parents, heterozygous carriers of pathogenic SPAST variants, included both asymptomatic carriers and patients with classic forms of SPG4. Biallelic variants of SPAST may explain cases of hereditary spastic paraplegia with autosomal recessive inheritance. Furthermore, some biallelic variants may also cause psychomotor regression with an infantile neurodegenerative disorder, associated with a tetrapyramidal syndrome, a new phenotype associated with the SPAST gene.
dc.language.isoENen_US
dc.rightsAttribution-NonCommercial-NoDerivs 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/us/*
dc.subject.enHomozygous
dc.subject.enNeurodegenerative disorder
dc.subject.enSPAST
dc.subject.enSpastic paraplegia
dc.subject.enSPG4
dc.title.enFrom spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.
dc.title.alternativeEur J Neurolen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1111/ene.70025en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed39731306en_US
bordeaux.journalEuropean Journal of Neurologyen_US
bordeaux.pagee70025en_US
bordeaux.volume32en_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.import.sourcepubmed
hal.identifierhal-04916217
hal.version1
hal.date.transferred2025-01-28T09:58:44Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
workflow.import.sourcepubmed
dc.rights.ccCC BY-NC-NDen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=European%20Journal%20of%20Neurology&rft.date=2025-01-01&rft.volume=32&rft.issue=1&rft.spage=e70025&rft.epage=e70025&rft.eissn=1468-1331&rft.issn=1468-1331&rft.au=DEGOUTIN,%20Manon&ANGELINI,%20Chloe&BAR,%20Claire&EL%20KHEDOUD,%20Wahiba%20Amer&BARNERIAS,%20Christine&rft.genre=article


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