{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T01:03:07Z","timestamp":1790470987291,"version":"4.1.0"},"reference-count":18,"publisher":"SAGE Publications","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAD"],"published-print":{"date-parts":[[2021,10,26]]},"abstract":"<jats:p>The 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.<\/jats:p>","DOI":"10.3233\/jad-210648","type":"journal-article","created":{"date-parts":[[2021,8,27]],"date-time":"2021-08-27T12:28:53Z","timestamp":1630067333000},"page":"73-78","source":"Crossref","is-referenced-by-count":3,"title":["Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene"],"prefix":"10.1177","volume":"84","author":[{"given":"Guillermo","family":"Gonz\u00e1lez-Ortega","sequence":"first","affiliation":[{"name":"Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Llamas-Velasco","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain"},{"name":"Group of Neurodegenerative Diseases, Instituto de Investigaci\u00f3n Hospital 12 de Octubre (I+12), 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Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adolfo","family":"G\u00f3mez-Grande","sequence":"additional","affiliation":[{"name":"Department of Nuclear Medicine, Hospital Universitario 12 de Octubre, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge","family":"L\u00f3pez-\u00c1lvarez","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Hospital Universitario 12 de Octubre, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa Ana","family":"Saiz D\u00edaz","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain"},{"name":"Department of Medicine, School of Medicine, Complutense University, Madrid, Spain"},{"name":"Epilepsy-EEG Unit, Hospital Universitario 12 de Octubre, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 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