Rett syndrome. Current status and new vistas.
RS, the most common cause of profound cognitive impairment in girls and women, is composed of characteristic clinical features, including communication dysfunction, stereotypic movements, and pervasive growth failure. Neuropathologic findings indicate a failure of neuronal maturation with too small neurons and too few dendritic arbors and no evidence of a progressive neurodegenerative process. The combination of clinical and neuropathologic characteristics presents the profile of a neurodevelopmental disorder. Mutations in the gene MECP2, which encodes MeCP2, have been identified in 80% to 85% of girls and women with RS. Furthermore, the panorama of phenotypes with MECP2 mutations now extends far beyond RS to include normal girls and women, mild learning disability, autistic spectrum disorders, and X-linked mental retardation. These rapid advances in our understanding of RS over the past three decades have opened new avenues of study in developmental neurobiology.
Percy
Alan K
AK
Departments of Pediatrics, Neurology, and Neurobiology, University of Alabama, Birmingham School of Medicine, 1600 7th Avenue South, Suite 516, Birmingham, AL 35233, USA. apercy@peds.uab.edu
D000328:Adult; D002648:Child; D002868:Chromosomal Proteins, Non-Histone; D003072:Cognition Disorders / Q000150:complications; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D051783:Methyl-CpG-Binding Protein 2; D009069:Movement Disorders / Q000150:complications; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D012640:Seizures / Q000150:complications; D016728:Self-Injurious Behavior / Q000150:complications
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins