Article
Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene.
Journal of Alzheimer's disease : JAD - 1 Jan 2021
González-Ortega Guillermo, Llamas-Velasco Sara, Arteche-López Ana, Quesada-Espinosa Juan Francisco, Puertas-Martín Verónica, Gómez-Grande Adolfo, López-Álvarez Jorge, Saiz Díaz Rosa Ana, Lezana-Rosales José Miguel, Villarejo-Galende Alberto, González de la Aleja Jesús
Abstract excerpt
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...
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