Severe brain involvement in 5q spinal muscular atrophy type 0

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorMENDONCA, Rodrigo H.
dc.contributor.authorROCHA, Antonio J.
dc.contributor.authorLOZANO-ARANGO, Andres
dc.contributor.authorDIAZ, Astry B.
dc.contributor.authorCASTIGLIONI, Claudia
dc.contributor.authorSILVA, Andre M. S.
dc.contributor.authorREED, Umbertina C.
dc.contributor.authorKULIKOWSKI, Leslie
dc.contributor.authorPARAMONOV, Ida
dc.contributor.authorCUSCO, Ivon
dc.contributor.authorTIZZANO, Eduardo F.
dc.contributor.authorZANOTELI, Edmar
dc.date.accessioned2020-01-21T15:05:15Z
dc.date.available2020-01-21T15:05:15Z
dc.date.issued2019
dc.description.abstractSpinal muscular atrophy (SMA) type 0 is the most severe form of SMA, associated with the SMN1 gene and manifesting at birth. Most patients die in the first weeks of life. In this work, we present 3 patients with SMA type 0 who survived >1 year and presented diffuse and progressive brain abnormalities on magnetic resonance imaging, which are not usually seen in patients with SMA. Thus, severe brain involvement may likely be the full end manifestation of an already extreme SMA phenotype caused by substantial reduction of the SMN protein in the brain. ANN NEUROL 2019eng
dc.description.indexMEDLINEeng
dc.identifier.citationANNALS OF NEUROLOGY, v.86, n.3, p.458-462, 2019
dc.identifier.doi10.1002/ana.25549
dc.identifier.eissn1531-8249
dc.identifier.issn0364-5134
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/34443
dc.language.isoeng
dc.publisherWILEYeng
dc.relation.ispartofAnnals of Neurology
dc.rightsrestrictedAccesseng
dc.rights.holderCopyright WILEYeng
dc.subject.otherwerdnig-hoffmann diseaseeng
dc.subject.othermouse modeleng
dc.subject.otherspectrumeng
dc.subject.othermotoreng
dc.subject.othersmaeng
dc.subject.wosClinical Neurologyeng
dc.subject.wosNeuroscienceseng
dc.titleSevere brain involvement in 5q spinal muscular atrophy type 0eng
dc.typearticleeng
dc.type.categoryoriginal articleeng
dc.type.versionpublishedVersioneng
dspace.entity.typePublication
hcfmusp.affiliation.countryEspanha
hcfmusp.affiliation.countryChile
hcfmusp.affiliation.countryisocl
hcfmusp.affiliation.countryisoes
hcfmusp.author.externalROCHA, Antonio J.:High Diagnost Excellence DASA Grp, Neuroradiol Sect, Sao Paulo, Brazil
hcfmusp.author.externalLOZANO-ARANGO, Andres:Hernan Henriquez Aravena Reg Hosp, Temuco, Chile
hcfmusp.author.externalDIAZ, Astry B.:Hernan Henriquez Aravena Reg Hosp, Temuco, Chile
hcfmusp.author.externalCASTIGLIONI, Claudia:Clin Las Condes, Dept Pediat Neurol, Santiago, Chile
hcfmusp.author.externalPARAMONOV, Ida:Valle Hebron Univ Hosp, Med Genet Grp, Valle Hebron Res Inst, Dept Clin & Mol Genet, Barcelona, Spain
hcfmusp.author.externalCUSCO, Ivon:Valle Hebron Univ Hosp, Med Genet Grp, Valle Hebron Res Inst, Dept Clin & Mol Genet, Barcelona, Spain
hcfmusp.author.externalTIZZANO, Eduardo F.:Valle Hebron Univ Hosp, Med Genet Grp, Valle Hebron Res Inst, Dept Clin & Mol Genet, Barcelona, Spain
hcfmusp.citation.scopus29
hcfmusp.contributor.author-fmusphcRODRIGO DE HOLANDA MENDONCA
hcfmusp.contributor.author-fmusphcANDRE MACEDO SERAFIM DA SILVA
hcfmusp.contributor.author-fmusphcUMBERTINA CONTI REED
hcfmusp.contributor.author-fmusphcLESLIE DOMENICI KULIKOWSKI
hcfmusp.contributor.author-fmusphcEDMAR ZANOTELI
hcfmusp.description.beginpage458
hcfmusp.description.endpage462
hcfmusp.description.issue3
hcfmusp.description.volume86
hcfmusp.origemWOS
hcfmusp.origem.pubmed31301241
hcfmusp.origem.scopus2-s2.0-85069928280
hcfmusp.origem.wosWOS:000480354400001
hcfmusp.publisher.cityHOBOKENeng
hcfmusp.publisher.countryUSAeng
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Artigos e Materiais de Revistas Científicas - FM/MNE
Artigos e Materiais de Revistas Científicas - HC/ICHC
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