title: Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation.
abstract: The phenotype attributed to MECP2 mutations continues to expand. In addition to classic and variant Rett syndrome, phenotypes include non-specific intellectual disability and autism spectrum disorder in females, and fatal neonatal encephalopathy in males. One particular phenotype of parkinsonism, pyramidal signs, and neuropsychiatric symptoms (PPM-X) has been described only in males. We report on the first female with the A140V MECP2 mutation presenting with late onset cognitive regression, pyramidal symptoms, parkinsonism, and bipolar symptoms. This finding emphasizes the need to consider MECP2 sequencing in females with non-classic Rett phenotypes, particularly those with intellectual disability and neuropsychiatric features.
authors: Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
authors: Sunita
authors: S
authors: Venkateswaran
authors: Hugh J
authors: HJ
authors: McMillan
authors: Asif
authors: A
authors: Doja
authors: Peter
authors: P
authors: Humphreys
mesh_terms: D000203:Activities of Daily Living; D000293:Adolescent; D041923:Adolescent Development; D017668:Age of Onset; D000409:Alanine; D003071:Cognition; D003072:Cognition Disorders / Q000235:genetics* / Q000503:physiopathology; D003937:Diagnosis, Differential; D004569:Electroencephalography; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D007859:Learning Disabilities / Q000235:genetics* / Q000503:physiopathology; D038901:X-Linked Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D020125:Mutation, Missense; D010641:Phenotype; D012720:Severity of Illness Index; D014633:Valine
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D014633:Valine; D000409:Alanine