منابع مشابه
Reduced nerve growth factor in Rett syndrome postmortem brain tissue.
To determine whether reduced nerve growth factor (NGF) and/or its high affinity receptor, trkA, play a role in the pathophysiology of Rett syndrome (RS), we used immunohistochemistry in paraffin-embedded human autopsy brain tissue, to quantify NGF and trkA levels within the frontal cortex of 9 RS females and 10 female controls of similar age. The results showed a significant reduction of NGF ex...
متن کاملBrain glucose metabolism in Rett Syndrome.
Rett syndrome is a progressive neurologic disorder affecting girls in early childhood with loss of achieved psychomotor abilities and mental retardation. Six sedated female patients (4 to 15 years of age) with a diagnosis of Rett syndrome were studied with [(18)F]fluorodeoxyglucose (FDG) and underwent positron emission tomography scanning of the brain. Relative tracer concentrations between dif...
متن کاملEarly development and regression in Rett syndrome.
This study utilized developmental profiling to examine symptoms in 14 girls with genetically confirmed Rett syndrome and whose families were participating in the Australian Rett syndrome or InterRett database. Regression was mostly characterized by loss of hand and/or communication skills (13/14) except one girl demonstrated slowing of skill development. Social withdrawal and inconsolable cryin...
متن کاملGrowth failure and outcome in Rett syndrome: specific growth references.
OBJECTIVES Prominent growth failure typifies Rett syndrome (RTT). Our aims were to 1) develop RTT growth charts for clinical and research settings, 2) compare growth in children with RTT with that of unaffected children, and 3) compare growth patterns among RTT genotypes and phenotypes. METHODS A cohort of the RTT Rare Diseases Clinical Research Network observational study participants was re...
متن کاملMetabolic Fingerprints of Altered Brain Growth, Osmoregulation and Neurotransmission in a Rett Syndrome Model
BACKGROUND Rett syndrome (RS) is the leading cause of profound mental retardation of genetic origin in girls. Since RS is mostly caused by mutations in the MECP2 gene, transgenic animal models such as the Mecp2-deleted ("Mecp2-null") mouse have been employed to study neurological symptoms and brain function. However, an interdisciplinary approach drawing from chemistry, biology and neuroscience...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1997
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-11-7-5