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http://hdl.handle.net/10400.16/2681
Título: | Diagnosis of Aicardi‐Goutières Syndrome in Adults: A Case Series |
Autor: | Videira, Gonçalo Malaquias, Maria João LARANJINHA, INES Martins, Ricardo Taipa, Ricardo Magalhães, Marina |
Palavras-chave: | Chilblains basal ganglia dystonia interferonopathy neuropediatric |
Data: | 17-Fev-2020 |
Editora: | Wiley |
Citação: | Videira 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/mdc3.12903 |
Resumo: | Introduction: 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. |
Peer review: | yes |
URI: | http://hdl.handle.net/10400.16/2681 |
DOI: | 10.1002/mdc3.12903 |
ISSN: | 2330-1619 |
Versão do Editor: | https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mdc3.12903 |
Aparece nas colecções: | SNR - Artigos publicados em revistas indexadas na Pubmed/Medline SNP - Artigos publicados em revistas indexadas na Medline SN - Artigos publicados em revistas indexadas na Pubmed/Medline |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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Videira-2020-Diagnosis-of-aicardigoutieres-syndr.pdf | 381,3 kB | Adobe PDF | Ver/Abrir |
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