雷特综合征
MECP2
共济失调
错义突变
医学
萎缩
儿科
突变
心理学
病理
精神科
遗传学
生物
表型
基因
作者
Maria Teresa Dotti,Alfredo Orrico,Nicola De Stefano,Carla Battisti,Francesco Sicurelli,Stefano Severi,C W Lam,Lucia Galli,Vincenzo Sorrentino,Antonio Federico
出处
期刊:Neurology
[Ovid Technologies (Wolters Kluwer)]
日期:2002-01-22
卷期号:58 (2): 226-230
被引量:76
摘要
Objective: 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 1H-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 (6/6), 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.
科研通智能强力驱动
Strongly Powered by AbleSci AI