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脆性X相关的震颤/共济失调综合征是一种累及多系统的神经功能障碍性疾病。它对广大临床医生是一个全新的概念,对脆性X相关的震颤/共济失调综合征的有关知识的认识,能够对该综合征作出正确的诊断。下面就对脆性X相关的震颤/共济失调综合征的分子基础、基因检测、临床表现、特征性的影像学及病理学表现等方面的一些研究进行了综述。
Fragile X related tremor / ataxia syndrome is a multi-systemic neurological dysfunction disease. It is a brand new concept for the general clinician, and knowledge of the fragile X related tremor / ataxia syndrome can make a correct diagnosis of the syndrome. The following is a review of the molecular basis of Fragile X related tremor / ataxia syndrome, genetic testing, clinical manifestations, characteristic imaging and pathological findings.