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White matter abnormalities in 15 subjects with SPG76

dc.rights.licenseopenen_US
dc.contributor.authorALKHALIFA, Abdulrahman
dc.contributor.authorCHEN, Shihan
dc.contributor.authorHASILOGLU, Zehra Isik
dc.contributor.authorFILOSTO, Massimiliano
dc.contributor.authorCALI, Elisa
dc.contributor.authorHOULDEN, Henry
dc.contributor.authorSGOBBI DE SOUZA, Paulo
dc.contributor.authorALAVI, Afagh
hal.structure.identifierInstitut de Neurosciences cognitives et intégratives d'Aquitaine [INCIA]
dc.contributor.authorGOIZET, Cyril
hal.structure.identifierInstitut de Neurosciences cognitives et intégratives d'Aquitaine [INCIA]
dc.contributor.authorSTEVANIN, Giovanni
dc.contributor.authorTAITHE, Frederic
dc.contributor.authorNICITA, Francesco
dc.contributor.authorVASCO, Gessica
dc.contributor.authorTOZZA, Stefano
dc.contributor.authorCOCOZZA, Sirio
dc.contributor.authorCARBONI, Nicola
dc.contributor.authorFIGUS, Andrea
dc.contributor.authorWU, Jianjun
dc.contributor.authorBASAK, A Nazli
dc.contributor.authorBRAIS, Bernard
dc.contributor.authorROULEAU, Guy
dc.contributor.authorLA PIANA, Roberta
dc.date.accessioned2024-06-24T08:55:55Z
dc.date.available2024-06-24T08:55:55Z
dc.date.issued2023-08-14
dc.identifier.issn0340-5354en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/200624
dc.description.abstractEnBackground and objectives: Hereditary spastic paraplegias (HSPs) are heterogenous genetic disorders characterized by progressive pyramidal tract involvement. SPG76 is a recently identified form of HSP, caused by biallelic calpain-1 (CAPN1) variants. The most frequently described MRI abnormality in SPG76 is mild cerebellar atrophy and non-specific white matter abnormalities were reported in only one case. Following the identification of prominent white matter abnormalities in a subject with CAPN1 variants, which delayed the diagnosis, we aimed to verify the presence of MRI patterns of white matter involvement specific to this HSP. Methods: We performed a retrospective radiological qualitative analysis of 15 subjects with SPG76 (4 previously unreported) initially screened for white matter involvement. Moreover, we performed quantitative analyses in our proband with available longitudinal studies. Results: We observed bilateral, periventricular white matter involvement in 12 subjects (80%), associated with multifocal subcortical abnormalities in 5 of them (33.3%). Three subjects (20%) presented only multifocal subcortical involvement. Longitudinal quantitative analyses of our proband revealed increase in multifocal white matter lesion count and increased area of periventricular white matter involvement over time. Discussion: SPG76 should be added to the list of HSPs with associated white matter abnormalities. We identified periventricular white matter involvement in subjects with SPG76, variably associated with multifocal subcortical white matter abnormalities. These findings, in the presence of progressive spastic paraparesis, can mislead the diagnostic process towards an acquired white matter disorder. © 2023, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany.
dc.language.isoENen_US
dc.subject.enHereditary spastic paraplegia
dc.subject.enWhite matter abnormalities
dc.subject.enSPG76
dc.subject.enCAPN1
dc.title.enWhite matter abnormalities in 15 subjects with SPG76
dc.title.alternativeJ Neurolen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1007/s00415-023-11918-5en_US
dc.subject.halSciences du Vivant [q-bio]/Neurosciences [q-bio.NC]en_US
dc.identifier.pubmed37578488en_US
bordeaux.journalJournal of Neurologyen_US
bordeaux.page5784-5792en_US
bordeaux.volume270en_US
bordeaux.hal.laboratoriesInstitut de neurosciences cognitives et intégratives d'Aquitaine (INCIA) - UMR 5287en_US
bordeaux.issue12en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionCNRSen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.identifier.funderIDSpastic Paraplegia Foundationen_US
hal.identifierhal-04621691
hal.version1
hal.date.transferred2024-06-24T08:55:58Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Journal%20of%20Neurology&rft.date=2023-08-14&rft.volume=270&rft.issue=12&rft.spage=5784-5792&rft.epage=5784-5792&rft.eissn=0340-5354&rft.issn=0340-5354&rft.au=ALKHALIFA,%20Abdulrahman&CHEN,%20Shihan&HASILOGLU,%20Zehra%20Isik&FILOSTO,%20Massimiliano&CALI,%20Elisa&rft.genre=article


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