A Rett syndrome MECP2 mutation that causes mental retardation in men
A Rett syndrome MECP2 mutation that causes mental retardation in men
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DOI：
10.1212/wnl.58.2.226
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发表时间：
2002-01-22
期刊：
影响因子：
9.9
通讯作者：
Federico, A
中科院分区：
文献类型：
--
作者：
Dotti, MT;Orrico, A;Federico, A
背景：描述在索引家族中与MECP2突变相关的一种新型X连锁智力低下的临床特征。背景：MECP2突变最初在高比例的经典瑞特综合征患者中被发现，被认为在男性中是致命的。作者最近在一个患有X连锁半显性智力低下的意大利家族中描述了一种新的A140V MECP2错义突变。
方法：对携带该突变的6名有症状的亲属（2名女性和4名男性）的神经特征进行了汇总。实验室检查包括脑电图（EEG）、肌电图（EMG）、周围神经传导速度（CV）、脑部磁共振成像（MRI）以及氢 - 1 - 磁共振波谱（H - 1 - MR spectroscopy）。
结果：所有受影响的成员都存在智力低下和神经损伤的迹象，但在男性中更为明显。神经特征包括缓慢进展的痉挛性轻截瘫/锥体束征（6/6）、腿部远端萎缩（6/6）、共济失调（2/6）以及手部姿势性震颤（3/6）。语言能力保留（6/6），但在年龄最大的兄弟中存在构音障碍（2/6）。所有病例都存在轻度的畸形特征。
结论：与A140V MECP2突变相关的神经疾病在男性中不一定是致命的，但他们比同一家族中的女性受影响更严重。
Background: To characterize the clinical features of a new type of X-linked mental retardation associated with MECP2 mutation in the index family. Background: MECP2 mutations, originally described in a high percentage of patients with classic Rett syndrome, were considered lethal in men. The authors recently described a novel A140V MECP2 missense mutation in an Italian family with X-linked semidominant mental retardation. Methods: The neurologic features of six symptomatic relatives (two women and four men) carrying the mutation were compiled. Laboratory investigations included EEG, EMG, conduction velocity (CV) of peripheral nerves, brain MRI, and H-1-MR spectroscopy. Results: Mental retardation and signs of neurologic impairment were present in all the affected members, but more pronounced in men. Neurologic features included slowly progressive spastic paraparesis/pyramidal signs (616), distal atrophy of the legs (6/6), ataxia (2/6), and postural tremor of the hands (3/6). Speech was preserved (6/6) but was dysarthric in the oldest brothers (2/6). Mild dysmorphic features were present in all cases. Conclusion: The neurologic disorder associated with A140V MECP2 mutation is not necessarily lethal in men, but they are more severely affected than women of the same family.