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Diagnosis of Aicardi‐Goutières Syndrome in Adults: A Case Series

2020-02-17Journal article Open access
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dc.contributor.authorVideira, Gonçalo
dc.contributor.authorMalaquias, Maria João
dc.contributor.authorLARANJINHA, INES
dc.contributor.authorMartins, Ricardo
dc.contributor.authorTaipa, Ricardo
dc.contributor.authorMagalhães, Marina
dc.date.accessioned2022-03-31T11:22:00Z
dc.date.available2022-03-31T11:22:00Z
dc.date.issued2020-02-17
dc.description.abstractIntroduction: Aicardi-Goutières syndrome (AGS) is a genetic disease presenting with early-onset encephalopathy, generalized dystonia, spasticity, and cognitive disability. Diagnosis may be difficult in adults, as the clinical course seems static from infancy. Methods: AGS patients from an adult movement disorders outpatient clinic were retrospectively analyzed. Results: A total of 5 patients and 1 asymptomatic carrier from 3 different families were identified. All had a homozygous c.529G>A,p.A177T mutation in exon 7 of the RNASEH2B gene. Two patients had neonatal-onset AGS, 2 had later onset forms, and 1 was slightly symptomatic. All were diagnosed in adulthood after chilblains, and basal ganglia calcifications were identified on computed tomography scans. Discussion: AGS patients have marked phenotypic variability regarding psychomotor development and morbidity. The present series included 1 asymptomatic carrier and 1 slightly symptomatic patient, both with homozygous RNASEH2B mutations. Chilblains and basal ganglia calcifications identified on computed tomography scan (but not on magnetic resonance imaging) are important clues for late diagnosis.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationVideira G, Malaquias MJ, Laranjinha I, Martins R, Taipa R, Magalhães M. Diagnosis of Aicardi-Goutières Syndrome in Adults: A Case Series. Mov Disord Clin Pract. 2020;7(3):303-307. . doi:10.1002/mdc3.12903pt_PT
dc.identifier.doi10.1002/mdc3.12903pt_PT
dc.identifier.issn2330-1619
dc.identifier.urihttp://hdl.handle.net/10400.16/2681
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWileypt_PT
dc.relation.publisherversionhttps://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mdc3.12903pt_PT
dc.subjectChilblainspt_PT
dc.subjectbasal gangliapt_PT
dc.subjectdystoniapt_PT
dc.subjectinterferonopathypt_PT
dc.subjectneuropediatricpt_PT
dc.titleDiagnosis of Aicardi‐Goutières Syndrome in Adults: A Case Seriespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceUnited States of Americapt_PT
oaire.citation.endPage307pt_PT
oaire.citation.issue3pt_PT
oaire.citation.startPage303pt_PT
oaire.citation.titleMovement Disorders Clinical Practicept_PT
oaire.citation.volume7pt_PT
person.familyNameVideira
person.familyNameMalaquias
person.familyNameFerreira Taipa
person.givenNameGonçalo
person.givenNameMaria João
person.givenNameRicardo Jorge
person.identifier.ciencia-idE319-3A9D-60DE
person.identifier.ciencia-idE316-D53D-8537
person.identifier.orcid0000-0001-9037-3449
person.identifier.orcid0000-0002-5704-9273
person.identifier.orcid0000-0002-9284-9823
person.identifier.orcid0000-0002-9260-0227
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicatione32f0c06-7f53-493d-a438-c1e8ab15eeb7
relation.isAuthorOfPublicationf423c5bb-2fca-4f81-8c55-572e1cf023c2
relation.isAuthorOfPublicationfe238142-43a6-4870-bf28-35b6b9b97e40
relation.isAuthorOfPublication97a7bf34-226a-4dc2-ae31-d0f86030cb52
relation.isAuthorOfPublication.latestForDiscoverye32f0c06-7f53-493d-a438-c1e8ab15eeb7

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