Premium
Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP 2 mutation
Author(s) -
Venkateswaran Sunita,
McMillan Hugh J,
Doja Asif,
Humphreys Peter
Publication year - 2014
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/dmcn.12334
Subject(s) - rett syndrome , mecp2 , parkinsonism , intellectual disability , autism spectrum disorder , autism , phenotype , psychology , cognition , psychiatry , mutation , neurodevelopmental disorder , pediatrics , medicine , genetics , clinical psychology , biology , disease , gene
The phenotype attributed to MECP 2 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 MECP 2 mutation presenting with late onset cognitive regression, pyramidal symptoms, parkinsonism, and bipolar symptoms. This finding emphasizes the need to consider MECP 2 sequencing in females with non‐classic Rett phenotypes, particularly those with intellectual disability and neuropsychiatric features.