ArticleAJNR. American journal of neuroradiology2008
Selective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging study.
Article in AJNR. American journal of neuroradiology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 2 of them syntheses that pooled it.
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Who cites it
59 citing papers in PubMed, 2 syntheses or guidelines pooled it, 109 citations in OpenAlex.
- Clinical differences in monozygotic twins with Rett syndrome: case report and systematic review.Orphanet journal of rare diseases · 2025Pooled it
- Movement disorders in patients with Rett syndrome: A systematic review of evidence and associated clinical considerations.Psychiatry and clinical neurosciences · 2021Pooled it
- Trial
- Metformin Treatment Shows Beneficial Effects on RTT-Associated Phenotypical Deficits inPharmaceuticals (Basel, Switzerland) · 2026Article
- Mutation of MeCP2 at T158M Leads to Distinct Molecular and Phenotypic Abnormalities in Male and Female Mice.Cells · 2025Article
- Persistent Disruptions in Prefrontal Connectivity Despite Behavioral Rescue by Environmental Enrichment in a Mouse Model of Rett Syndrome.The Journal of comparative neurology · 2025Article
- Globally Reduced Brain Volume in Rett Syndrome.Pediatric neurology · 2025Article
- Persistent Disruptions in Prefrontal Connectivity Despite Behavioral Rescue by Environmental Enrichment in a Mouse Model of Rett Syndrome.bioRxiv : the preprint server for biology · 2025Article
- Rett syndrome.Nature reviews. Disease primers · 2024Review
- Developmental change of brain volume in Rett syndrome in Taiwan.Journal of neurodevelopmental disorders · 2024Article
- Genetic Instability and Disease Progression of Indian Rett Syndrome Patients.Molecular neurobiology · 2024Article
- Metformin Induces MeCP2 in the Hippocampus of Male Mice with Sex-Specific and Brain-Region-Dependent Molecular Impact.Biomolecules · 2024Article
- Condensin-mediated restriction of retrotransposable elements facilitates brain development in Drosophila melanogaster.Nature communications · 2024Article
- Rett Syndrome: A Tale of Altered Genetics, Synaptic Plasticity, and Neurodevelopmental Dynamics.Cureus · 2023Review
- Mecp2 deletion results in profound alterations of developmental and adult functional connectivity.Cerebral cortex (New York, N.Y. : 1991) · 2023Article
- Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants.International journal of molecular sciences · 2022Article
- Article
- Brain structural alterations in young girls with Rett syndrome: A voxel-based morphometry and tract-based spatial statistics study.Frontiers in neuroinformatics · 2022Article
- Oxytocin and serotonin in the modulation of neural function: Neurobiological underpinnings of autism-related behavior.Frontiers in neuroscience · 2022Review
- Comprehensive Volumetric Analysis ofFrontiers in neuroscience · 2022Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
background and purposePrevious studies have examined volumetric abnormalities in Rett syndrome (RTT), using MR imaging and focusing on selective changes. However, these studies preceded the identification of MECP2 as the gene mutated in most RTT cases. We studied regional brain volume changes as noted by MR imaging in girls with RTT who had mutations in the MECP2 gene and more or less severe clinical outcomes to further characterize the neuroanatomy of RTT and its correlations with clinical severity. MATERIALS AND
methodsComplementary semiautomated Talairach- and voxel-based approaches were used to study spoiled gradient-recalled acquisition sequence MR imaging scans from 23 girls with MECP2 mutations/RTT, including a pair of discordant monozygotic twins and 25 age-matched control girls. Both absolute and relative volumetric changes were examined to account for the well-documented global reduction in brain volume seen in RTT.
resultsAbsolute volumetric reductions were observed throughout the brain in RTT. Selective/relative decreases in parietal lobe gray matter, particularly in the dorsal parietal region, and mild, diffuse reductions in cortical white matter were observed in the RTT group compared with control subjects. In girls with RTT and a more severe phenotype, anterior frontal lobe volumes were relatively more reduced. Twin comparisons revealed selective preservation of the occipital cortex.
conclusionSelective reductions of dorsal parietal gray matter and preservation of the occipital cortex seem to be basic neuroanatomic features of RTT, whereas preferential reduction of the anterior frontal lobe appears to be a correlate of clinical severity in this disorder. The most affected brain regions include those that may underlie key functional deficits observed in RTT.
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