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Novel compound heterozygous variants of SPG11 gene associated with young-adult amyotrophic lateral sclerosis

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dc.contributor.authorSantos Silva, Cláudia
dc.contributor.authorOliveira Santos, Miguel
dc.contributor.authorMadureira, João
dc.contributor.authorReimão, Sofia
dc.contributor.authorCarvalho, Mamede
dc.date.accessioned2023-07-31T13:18:58Z
dc.date.available2023-07-31T13:18:58Z
dc.date.issued2022
dc.description© The Author(s) under exclusive licence to Belgian Neurological Society 2022.pt_PT
dc.description.abstractSPG11 gene is localized on chromosome 15q21 and encodes spatacsin. Mutations of this gene are typically associated with autosomal recessive hereditary spastic paraplegia (HSP)-11, causing progressive spasticity of the lower limbs. This type of HSP is usually associated with other manifestations, such as thickness reduction of corpus callosum, cognitive impairment, peripheral neuropathy, pseudobulbar involvement. Nevertheless, SPG11 pathogenic variants are also associated with a spectrum of clinical manifestations, including juvenile amyotrophic lateral sclerosis (ALS), hereditary motor sensory neuropathy (Charcot–Marie–Tooth disease type 2X), and multiple sclerosis mimics.pt_PT
dc.description.sponsorshipHorizon 2020 Framework Programme, GA101017598, Mamede de Carvalhopt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationActa Neurol Belg. 2023 Aug;123(4):1627-1629pt_PT
dc.identifier.doi10.1007/s13760-022-02148-zpt_PT
dc.identifier.eissn2240-2993
dc.identifier.issn0300-9009
dc.identifier.urihttp://hdl.handle.net/10451/58800
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringer Naturept_PT
dc.relationBRinging Artificial INTelligencE home for a better cAre of amyotrophic lateral sclerosis and multiple SclERosis
dc.relation.publisherversionhttps://www.springer.com/journal/13760pt_PT
dc.titleNovel compound heterozygous variants of SPG11 gene associated with young-adult amyotrophic lateral sclerosispt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardNumber101017598
oaire.awardTitleBRinging Artificial INTelligencE home for a better cAre of amyotrophic lateral sclerosis and multiple SclERosis
oaire.awardURIinfo:eu-repo/grantAgreement/EC/H2020/101017598/EU
oaire.citation.endPage1629pt_PT
oaire.citation.issue4pt_PT
oaire.citation.startPage1627pt_PT
oaire.citation.titleActa Neurologica Belgicapt_PT
oaire.citation.volume123pt_PT
oaire.fundingStreamH2020
person.familyNameSantos Silva
person.familyNameOliveira Santos
person.familyNameReimão
person.familyNamede Carvalho
person.givenNameCláudia
person.givenNameMiguel
person.givenNameSofia
person.givenNameMamede
person.identifier.ciencia-id211D-4BEE-28DD
person.identifier.ciencia-idB511-DD32-12D7
person.identifier.ciencia-idCB19-3E68-EBCB
person.identifier.orcid0000-0003-4495-6314
person.identifier.orcid0000-0002-8290-0410
person.identifier.orcid0000-0002-8822-3166
person.identifier.orcid0000-0001-7556-0158
person.identifier.scopus-author-id57217474349
person.identifier.scopus-author-id7101893769
project.funder.identifierhttp://doi.org/10.13039/501100008530
project.funder.nameEuropean Commission
rcaap.rightsrestrictedAccesspt_PT
rcaap.typearticlept_PT
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relation.isAuthorOfPublicationeab02009-54a9-4518-8b22-9426433cea69
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