Percy A K
Department of Pediatrics, University of Alabama at Birmingham 35233, USA.
Eur Child Adolesc Psychiatry. 1997;6 Suppl 1:80-2.
Rett syndrome (RS) represents a neurodevelopmental disorder of uncertain pathogenesis, featuring an apparent arrest in neural maturation during the perinatal period. Recent findings highlight the intensive ongoing research activities surrounding the neurobiology and neurochemistry of this unique disorder. Abnormalities in multiple neurotransmitter/receptor systems (dopaminergic, glutamatergic, and cholinergic), whether primary or secondary, underscore the pervasive effects of this maturational arrest. The possible role of neurotrophic factors is supported by significantly reduced nerve growth factor levels in cerebrospinal fluid. Similarly, gangliosides and other neuronal markers are perturbed in RS and may represent another critical area of study. The availability of a suitable animal model would accelerate the pace of these important investigations.
瑞特综合征（RS）是一种发病机制不明的神经发育障碍，其特征是围产期神经成熟明显停滞。最近的研究结果凸显了围绕这种独特疾病的神经生物学和神经化学展开的密集研究活动。多种神经递质/受体系统（多巴胺能、谷氨酸能和胆碱能）的异常，无论是原发性还是继发性的，都突显了这种成熟停滞的广泛影响。脑脊液中神经生长因子水平显著降低支持了神经营养因子的可能作用。同样，神经节苷脂和其他神经元标志物在瑞特综合征中也受到干扰，可能代表另一个关键的研究领域。合适动物模型的出现将加快这些重要研究的步伐。
