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Prenatal Diagnosis of Infantile Neuroaxonal Dystrophy

dc.contributor.authorPinto, F.
dc.contributor.authorPina, C.
dc.contributor.authorRodrigues, M.
dc.contributor.authorCarrilho, I.
dc.contributor.authorSaraiva, J.
dc.contributor.authorMendes, M.
dc.contributor.authorSantos, J.
dc.contributor.authorMartins, M.
dc.date.accessioned2016-12-24T01:51:20Z
dc.date.available2016-12-24T01:51:20Z
dc.date.issued2010
dc.description.abstractInfantile Neuroaxonal Dystrophy (INAD1, MIM # 256600), is a rare autossomal recessive neurodegenerative disorder. The clinical picture is characterized by psychomotor regression and hypotonia, which progresses to spastic tetraplegia, visual impairment and dementia. Onset is within the first 2 years of life and death usually happens before the age of 10. In 2006, Morgan et al described that mutations in PLA2G6 gene localized in chromosome 22 (22q13), caused INAD1. Evidence showed that a large proportion of patients with infantile neuroaxonal dystrophy have a mutation in the PLA2G6 gene. A 36-years-old pregnant woman presented for obstetric follow up. It was the second pregnancy of this healthy, nonconsanguineous couple. Their 7 year-old daughter was affected with Infantile Neuroaxonal Dystrophy. Molecular testing was done in the child and, as a causal mutation was detected, it was possible to offer a specific prenatal diagnosis. The molecular study of PLA2G6 gene by amniocentesis showed the presence of a mutation in heterozygoty and the karyotype was normal for a female foetus. To our knowledge, this is the first molecular prenatal diagnosis of INAD1 in Portugal.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationARQUIVOS DE MEDICINA, 24(3):89-90pt_PT
dc.identifier.issn0871-3413
dc.identifier.urihttp://hdl.handle.net/10400.16/2017
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherArquiMed – Edições Científicas AEFMUPpt_PT
dc.relation.publisherversionhttp://www.scielo.mec.pt/pdf/am/v24n3/v24n3a02.pdfpt_PT
dc.subjectneuroaxonalpt_PT
dc.subjectdystrophypt_PT
dc.subjectPLA2G6pt_PT
dc.titlePrenatal Diagnosis of Infantile Neuroaxonal Dystrophypt_PT
dc.title.alternativeDiagnóstico Prenatal de Distrofia Neuroaxonalpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlacePortugalpt_PT
oaire.citation.endPage90pt_PT
oaire.citation.issue3pt_PT
oaire.citation.startPage89pt_PT
oaire.citation.titleArquivos de Medicinapt_PT
oaire.citation.volume24pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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