RETT SYNDROME--PATHOGENESIS, GENETICS, AND SEARCH FOR A MARKER

22名新的Rett综合征（RS）患者和9名RS患者， 至少2年前接受过评估，根据 年 研究的目的是确定RS是否是一种进行性疾病， 神经退行性疾病或早期婴儿发育障碍 随后是静态过程。 为此，将患者进行比较， 不同的时间点，两次评价之间至少间隔两年。 神经学、发育、言语和物理治疗评估是 比较了 对于更多的客观证据，MRI体积评估，EEG 和人体测量方法。 初步研究， 表明疾病进展迹象。 正电子发射 脑断层扫描（PET）研究令人惊讶地显示， D2多巴胺受体水平（突触后）和多巴胺摄取 部位（突触前），尽管尸检大脑中的多巴胺水平较低。 这可能表明，有一个补偿性上调， 多巴胺能系统，并部分解释了无效的左旋多巴 缓解RS的锥体外系症状。 研究以确定是否 外周自主神经功能紊乱也是减少的原因 额叶脑血流正常

Twenty-two new Rett syndrome (RS) patients and nine patients with RS, evaluated at least 2 years previously were admitted to the PCRU per year. The purpose of the study is to determine if RS is a progressive neurodegenerative disorder or a developmental disorder of early infnacy followed by static course later. To this end, patients are compared at different time points, with a minimum of 2 years between evaluations. Neurological, developmental, speech and physical therapy assessments are compared. For more objective evidence, MRI volumetric assessment, EEG and anthropometric measures are used. Preliminary studies to not indicate evidence for a progressive disease. Positron Emission Tomography (PET) studies of the brain surprisingly show low-normal levels of D2 dopamine receptors (post-synaptic) and dopamine uptake sites (pre-synaptic), despite low dopamine levels in autopsied brain. This would suggest that there is a compensatory upregulation of the dopaminergic system, and in part explains the ineffectiveness of L-dopa to relieve the extrapyramidal symptoms in RS. Studies to determine if the peripheral autonomic dysfunction is also the cuase of reduced frontal cerebral blood flow are in progress.