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， 至少两年前接受评估的人被允许进入PCRU Per 年。研究的目的是确定RS是否是进行性的 神经退行性疾病或婴儿期早期的发育障碍 之后是静态课程。为此，患者被比较在 不同的时间点，两次评价之间至少相隔2年。 神经、发育、言语和物理治疗评估是 比较一下。对于更客观的证据，MRI容量评估，EEG 并使用人体测量方法。要注意的初步研究 表明有进行性疾病的证据。正电子发射 令人惊讶的是，对大脑的断层扫描(PET)研究显示正常水平较低 D2多巴胺受体水平(突触后)和多巴胺摄取 部位(突触前)，尽管尸检的大脑中多巴胺水平很低。 这将表明，存在补偿性上调 多巴胺能系统，并部分解释了L-多巴的无效 缓解RS的锥体外系症状。研究以确定是否 外周自主神经功能障碍也是减少的原因 前额脑血流正在进行中。

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.