Rett综合征(Rett Syndrome),又称雷特综合征,是一种严重影响儿童精神运动发育的罕见疾病。由于男性患者几乎无法存活,故Rett综合征好发于女性幼童。在出生后的6至18个月内,患病儿童会经历一段正常的神经和身体发展期,此后,Rett综合征的典型症状开始在儿童早期显现,并经历以下发展阶段:早发期、退化期、平台期及晚期运动...
[8]J. Guy, B. Hendrich, M. Holmes, J.E. Martin, A. Bird, A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome, Nat Genet 27(3) (2001) 322-6. [9]R.Z. Chen, S. Akbarian, M. Tudor, R. Jaenisch, Deficiency of methyl-CpG binding protein-2 in CNS...
[8]J. Guy, B. Hendrich, M. Holmes, J.E. Martin, A. Bird, A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome, Nat Genet 27(3) (2001) 322-6. [9]R.Z. Chen, S. Akbarian, M. Tudor, R. Jaenisch, Deficiency of methyl-CpG binding protein-2 in CNS...
Rett syndrome, rare progressive neurological disorder characterized by severe intellectual disability, autism-like behaviour patterns, and impaired motor function. The disorder was first described in the 1960s by the Austrian physician Andreas Rett. Toda
Rett Syndrome Symptoms The age when symptoms appear varies. Most babies with Rett syndrome seem to grow normally for the first 6 months before any signs of the disorder become obvious. Researchers once thought that children with RTT never showed any symptoms before 6 months. But more recent stud...
Koyo Ohno,et al. Effect of serotonin 1A agonists and selective serotonin-reuptake inhibitors on behavioral and nighttime respiratory symptoms in Rett syndrome. Pediatric Neurology (2016), doi: 10.1016/j.pediatrneurol.2016.03.016. 大话精神编译,转...
近日,来自美国德州儿童医院的Huda Y. Zoghbi团队在Nature杂志上发表了一篇题为“Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome”的文章,在这项研究中,作者使用Rett综合征小鼠模型发现,在症状前阶段开始的强化训练显著...
Rett syndrome (RTT) is a rare random brain & nervous system disorder that only affects girls due to it being an X-linked mutation and although it is genetic, it is not hereditary; it rarely affects boys, when it does the symptoms are more severe and the “babies rarely live past birth...
This chapter will provide a historical perspective of Rett syndrome, from initial description of the disease to current understanding. Furthermore, we will discuss the genetics, pathology, and symptoms that distinguish RTT from other neurodevelopmental disorders associated with intellectual disability. We ...
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat. Genet. 27, 322–326 (2001). Article CAS PubMed Google Scholar Chen, Y. et al. Modeling Rett syndrome using TALEN-edited MECP2 mutant cynomolgus monkeys. Cell 169, 945–955.e10 (2017). Article CAS...