Barisić N, Mihatov I
Department of Pediatrics, Zagreb University Hospital Center, Kispaticeva 12, 10000 Zagreb, Croatia.
Croat Med J. 2000 Sep;41(3):306-13.
Longitudinal assessment of clinical and neurophysiological abnormalities in childhood and adolescence and incidence analysis of tandem Charcot-Marie-Tooth disease type 1A gene duplication in Croatian children with Charcot-Marie-Tooth type 1 neuropathy.
Eight Croatian children with Charcot-Marie-Tooth type 1 neuropathy, aged 4-19 years, were studied clinically, neurophysiologically, and neuropathologically during 1-11 years of follow-up. All children were examined at least once, and in 4 children the measurements were repeated. Molecular genetic analysis was performed in all patients and their family members in order to determine the presence of the Charcot-Marie-Tooth disease type 1A duplication on chromosome 17p11.2-p12, using restriction fragment length polymorphic and short tandem repeat markers.
Clubfoot was the most frequently observed clinical feature in children under 10 years of age, whereas muscle hypotrophy, scoliosis, and contractures developed in the second decade of life. All patients showed decreased motor nerve conduction velocity (7-30 m/s) and prolonged distal motor latencies on the first and follow-up examinations. Compound muscle action potential amplitude reduction (0.1-1.25 mV) was recorded in the first and second decade of life. In 6 out of 8 children, molecular genetic studies demonstrated the presence of the 1.5 megabase tandem Charcot-Marie-Tooth disease type 1A duplication in 17p11.2-p12, mostly of paternal origin.
Pronounced neurographic abnormalities and mild clinical features characterize Charcot-Marie-Tooth type 1 neuropathy in the first decade. There were no significant differences in neurographic abnormalities in the first or second decade of life between Croatian children with and without Charcot-Marie-Tooth type 1A duplication.
对克罗地亚1型遗传性运动感觉神经病患儿的临床和神经生理学异常进行纵向评估,并分析串联型1A型遗传性运动感觉神经病基因重复的发生率。
对8名年龄在4至19岁的克罗地亚1型遗传性运动感觉神经病患儿进行了为期1至11年的临床、神经生理学和神经病理学研究。所有儿童至少接受了一次检查,其中4名儿童的测量结果进行了重复。对所有患者及其家庭成员进行了分子遗传学分析,以确定17号染色体p11.2 - p12区域是否存在1A型遗传性运动感觉神经病基因重复,采用限制性片段长度多态性和短串联重复标记。
马蹄内翻足是10岁以下儿童最常见的临床特征,而肌肉萎缩、脊柱侧弯和挛缩则在第二个十年出现。所有患者在首次及随访检查中均显示运动神经传导速度降低(7 - 30米/秒)和远端运动潜伏期延长。在第一个和第二个十年均记录到复合肌肉动作电位幅度降低(0.1 - 1.25毫伏)。8名儿童中有6名的分子遗传学研究表明,在17p11.2 - p12区域存在1.5兆碱基的串联型1A型遗传性运动感觉神经病基因重复,大多数来自父系。
在第一个十年,1型遗传性运动感觉神经病的特征是明显的神经电图异常和轻微的临床特征。有或没有1A型遗传性运动感觉神经病基因重复的克罗地亚儿童在第一个或第二个十年的神经电图异常方面没有显著差异。