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dc.contributor.authorGonzález-Ortega, Guillermo
dc.contributor.authorLlamas-Velasco, Sara
dc.contributor.authorArteche-López, Ana
dc.contributor.authorQuesada Espinosa, Juan Francisco
dc.contributor.authorPuertas-Martín, Verónica
dc.contributor.authorGómez-Grande, Adolfo
dc.contributor.authorLópez-Álvarez, Jorge
dc.contributor.authorSaiz Díaz, Rosa Ana
dc.contributor.authorLezana-Rosales, José Miguel
dc.contributor.authorVillarejo-Galende, Alberto
dc.contributor.authorGonzález de la Aleja, Jesús
dc.date2021
dc.date.accessioned2022-04-01T09:42:20Z
dc.date.available2022-04-01T09:42:20Z
dc.identifier.issn1387-2877
dc.identifier.urihttps://reunir.unir.net/handle/123456789/12784
dc.description.abstractThe haploinsufficiency of the methyl-binding domain protein 5 (MBD5) gene has been identified as the determinant cause of the neuropsychiatric disorders grouped under the name MBD5-neurodevelopment disorders (MAND). MAND includes patients with intellectual disability, behavioral problems, and seizures with a static clinical course. However, a few reports have suggested regression. We describe a non-intellectually disabled female, with previous epilepsy and personality disorder, who developed early-onset dementia. The extensive etiologic study revealed a heterozygous nonsense de novo pathogenic variant in the MBD5 gene. This finding could support including the MBD5 gene in the study of patients with atypical early-onset dementia. © 2021 - IOS Press. All rights reserved.es_ES
dc.language.isoenges_ES
dc.publisherIOS Press BVes_ES
dc.relation.ispartofseries;vol. 84, nº 1
dc.relation.urihttps://content.iospress.com/articles/journal-of-alzheimers-disease/jad210648es_ES
dc.rightsrestrictedAccesses_ES
dc.subjectearly-onset dementiaes_ES
dc.subjectgenees_ES
dc.subjecthuman phenotype ontologyes_ES
dc.subjectMBD5-neurodevelopment disorderses_ES
dc.subjectmethyl-binding domain protein 5 (MBD5)es_ES
dc.subjectpersonality disorderes_ES
dc.subjectseizureses_ES
dc.subjectScopuses_ES
dc.subjectJCRes_ES
dc.titleEarly-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Genees_ES
dc.typearticlees_ES
reunir.tag~ARIes_ES
dc.identifier.doihttps://doi.org/10.3233/JAD-210648


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