Neurology Central talks to Rett syndrome expert, Alan Percy, for Rare Disease Day 2016.
Browsing: brain development
New findings highlight links between neural wiring and behavioral traits in men and women, providing possible insight for personalized medicine.
Future Neurology’s special focus on catatonia reviews the nosology, classification, etiology and treatment of the underecognized syndrome.
Abnormal axonal growth in CFEOM3 could be prevented through introduction of mutation in kinesin protein
Introduction of a mutation into certain kinesin motor proteins has been observed to restore normal axonal growth in cells with the CFEOM3 -causing β3-tubulin mutation in mice, demonstrating a disease-suppressing effect of this kinesin mutation both in vitro and in vivo.
New findings highlight a link between decreased levels of vitamin B12 forms, neuropsychiatric disorders and aging.
Regulatory RNAs and control of epigenetic mechanisms: expectations for cognition and cognitive dysfunction
This reviews discusses recent work into the role of non-coding RNAs in the control of epigenetic mechanisms involved in cognitive function, including neuroplasticity and neuronal development. The role of non-coding RNAs in the context of disorders such as schizophrenia and Alzheimer’s disease is also considered.
Researchers have discovered that a gene linked to psychiatric disorders is crucial to the development of the cerebral cortex during pregnancy.
Analysis of cytoplasmic and nuclear isoforms of Rbfox1 highlight complex role of the gene in autism development.
This Epigenomics review explores the role of UBE3A in the regulation of protein stability and transcription as well as current understanding of UBE3A imprinting in neurons responsible for the development of a range of neurodevelopmental disorders.
Experiments in mice have demonstrated that restoration of the X-linked gene MeCP2 may reverse some characteristic pathology of Rett syndrome. This article reviews different strategies for targeting Rett syndrome at the level of the gene and the challenges associated with them.