Background: Rett Syndrome is a neurodevelopmental disorder, one of the least commonly occurring autism spectrum disorders (ASD),affecting mainly females.
Aim: To describe features and molecular specificities of Rett syndrome.
Methods: To identify articles for this review, a Pubmed search was conducted using the following keywords: Rett syndrome, regression,mutation, stereotypes.
Results: This syndrome is characterized by cognitive impairment,communication dysfunction, stereotypic movement disorder, and growth failure. It is generally caused by mutations in the MECP2 gene. Rett Syndrome has a prevalence ranging from 10-20 000 females. Specific treatment is not available, but patients need a careful planning for long-term care, with multidisciplinary approaches.
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Methylmalonic acidaemia masquerading as a neurodegenerative disorder.
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Paediatrics, King George's Medical College, Lucknow, Uttar Pradesh, India.
We present the case of a toddler displaying neuroregression post-acute gastroenteritis, initially suggesting neurodegenerative disorders. Further investigations showed atypical results-neuroimaging was inconsistent with suspected disorders, while fundus evaluation, evoked potentials and nerve conduction velocity were normal. Specialised tests using gas chromatography mass spectrometry and tandem mass spectrometry identified methylmalonic acidaemia (MMA), implicating abnormal neurometabolism.
View Article and Find Full Text PDFEffects of MeCP2 on chronic seizures and cognitive function in mice with temporal lobe epilepsy.
Epilepsy Res
January 2025
Institute of Neurobiology, School of Basic Medical Sciences, Xi'an Jiaotong University Health Science Center, 76 West Yanta Road, Xi'an City 710061, China; Institute of Neuroscience, Translational Medicine Institute, Xi'an Jiaotong University Health Science Center, 76 West Yanta Road, Xi'an City 710061, China. Electronic address:
Mutations in methyl CpG binding protein 2 (MeCP2) are linked to Rett syndrome, in which epilepsy is one of the most well-described disorders. However, little is known about the specific role of MeCP2 during epileptogenesis. Our previous study has demonstrated that MeCP2 has a unique control on the development of mossy fiber sprouting (MFS) in the epileptic hippocampus.
View Article and Find Full Text PDFIntegrated gene expression and alternative splicing analysis in human and mouse models of Rett syndrome.
Sci Rep
January 2025
Institute of Molecular Biology and Pathology, National Research Council, 00185, Rome, Italy.
Mutations of the MECP2 gene lead to Rett syndrome (RTT), a rare developmental disease causing severe intellectual and physical disability. How the loss or defective function of MeCP2 mediates RTT is still poorly understood. MeCP2 is a global gene expression regulator, acting at transcriptional and post-transcriptional levels.
View Article and Find Full Text PDFComprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2-allelic disorders.
Ann Clin Transl Neurol
January 2025
Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.
Objective: Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) result from under- and overexpression of MECP2, respectively. Preclinical studies using genetic-based treatment showed robust phenotype recovery for both MDS and RTT. However, there is a risk of converting MDS to RTT, or vice versa, if accurate MeCP2 levels are not achieved.
View Article and Find Full Text PDFAssessing Experiences With Trofinetide for Rett Syndrome: Interviews With Caregivers of Participants in Clinical Trials.
Clin Ther
January 2025
Acadia Pharmaceuticals, Inc., San Diego, California. Electronic address:
Purpose: Rett syndrome (RTT) is a rare neurodevelopmental disorder that mainly affects girls and women. Trofinetide is approved for the treatment of RTT in adults and children aged ≥2 years. To gain insight into experiences with RTT and effects of trofinetide treatment at different stages of RTT, interviews with caregivers of individuals with RTT were conducted upon their exit from the open-label trofinetide trials.
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