Protic Dragana, Salcedo-Arellano Maria J, Dy Jeanne Barbara, Potter Laura A, Hagerman Randi J
Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, CA, United States.
Department of Pharmacology, Clinical Pharmacology and Toxicology, School of Medicine, University of Belgrade, Belgrade, Serbia.
Curr Pediatr Rev. 2019;15(4):251-258. doi: 10.2174/1573396315666190625110748.
Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability with prevalence rates estimated to be 1:5,000 in males and 1:8,000 in females. The increase of >200 Cytosine Guanine Guanine (CGG) repeats in the 5' untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene results in transcriptional silencing on the FMR1 gene with a subsequent reduction or absence of fragile X mental retardation protein (FMRP), an RNA binding protein involved in the maturation and elimination of synapses. In addition to intellectual disability, common features of FXS are behavioral problems, autism, language deficits and atypical physical features. There are still no currently approved curative therapies for FXS, and clinical management continues to focus on symptomatic treatment of comorbid behaviors and psychiatric problems. Here we discuss several treatments that target the neurobiological pathway abnormal in FXS. These medications are clinically available at present and the data suggest that these medications can be helpful for those with FXS.
脆性X综合征（FXS）是遗传性智力残疾最常见的病因，据估计，其在男性中的患病率为1:5000，在女性中的患病率为1:8000。脆性X智力低下1（FMR1）基因5'非翻译区中超过200个胞嘧啶-鸟嘌呤-鸟嘌呤（CGG）重复序列的增加，导致FMR1基因转录沉默，随后脆性X智力低下蛋白（FMRP）减少或缺失，FMRP是一种参与突触成熟和消除的RNA结合蛋白。除智力残疾外，FXS的常见特征还包括行为问题、自闭症、语言缺陷和非典型身体特征。目前尚无批准用于治疗FXS的治愈性疗法，临床管理仍集中于对共病行为和精神问题的对症治疗。在此，我们讨论几种针对FXS中神经生物学途径异常的治疗方法。这些药物目前在临床上均可获得，数据表明这些药物对FXS患者可能有帮助。
