Clinical and neurophysiological investigation of a large family with dominant Charcot-Marie-Tooth type 2 disease with pyramidal signs

被引：1
作者：
de Aquino Neves, Eduardo Luis [1 ]
Kok, Fernando [2 ]
机构：
[1] Univ Sao Paulo, Postgrad Program Neurol, Dept Neurol, Sao Paulo, Brazil
[2] Univ Sao Paulo, Sch Med, Dept Neurol, Sao Paulo, Brazil
来源：
ARQUIVOS DE NEURO-PSIQUIATRIA | 2011年 / 69卷 / 03期
关键词：
Charcot-Marie-Tooth disease; CMT2; axonal hereditary neuropathy; NEUROPATHY TYPE-I; HEREDITARY MOTOR; FEATURES; CMT; MUTATIONS; 2A;
D O I：
暂无
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
Charcot-Marie-Tooth (CMT) disease is a hereditary neuropathy of motor and sensory impairment with distal predominance. Atrophy and weakness of lower limbs are the first signs of the disease. It can be classified, with the aid of electromyography and nerve conduction studies, as demyelinating (CMT1) or axonal (CMT2). Objective: Clinical and neurophysiological investigation of a large multigenerational family with CMT2 with autosomal dominant mode of transmission. Method: Fifty individuals were evaluated and neurophysiological studies performed in 22 patients. Results: Thirty individuals had clinical signs of motor-sensory neuropathy. Babinski sign was present in 14 individuals. Neurophysiological study showed motor-sensory axonal polyneuropathy. Conclusion: The clinical and neurophysiological characteristics of this family does not differ from those observed with other forms of CMT, except for the high prevalence of Babinski sign.
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收藏
页码：424 / 430
页数：7
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