Phenotype of Charcot-Marie-Tooth disease Type 2
Phenotype of Charcot-Marie-Tooth disease Type 2
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DOI：
10.1212/01.wnl.0000263479.97552.94
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发表时间：
2007-05-15
期刊：
影响因子：
9.9
通讯作者：
de Visser, M.
中科院分区：
文献类型：
--
作者：
Bienfait, H. M. E.;Baas, F.;de Visser, M.
探讨腓骨肌萎缩症（CMT）2型的临床和电生理表型在大量的影响家庭。方法：通过DNA分析排除了CMT 1型、遗传性压力易感性神经病和Cx32基因突变引起的CMT。我们对目前已知的CMT 2型基因进行了遗传分析。结果：18个家庭的61人受到影响。百分之九十的病人能够在有或没有艾滋病的帮助下行走。13%的患者出现小腿近端肌肉无力。15%的患者存在不对称特征。36%的患者膝反射正常或活跃。来自8个家庭的10名患者发生了足底伸肌反应，无相关痉挛。在MFN2、BSCL 2和RAB 7基因中仅鉴定出三种致病突变。NEFL、HSPB 1、HSPB 8、加尔斯、DNM 2和GDAP 1基因中未发现突变。结论：在组水平上，腓骨肌萎缩症（CMT）2型的临床表型是一致的，具有对称的远端无力、萎缩和感觉障碍，腿部比手臂更明显，尽管存在遗传异质性。敏捷反射、足底伸肌反应和不对称肌肉受累可被认为是CMT 2型表型的一部分。在我们研究的家庭中，只有17%的家庭发现了致病基因突变。
To investigate the clinical and electrophysiologic phenotype of Charcot-Marie-Tooth disease (CMT) Type 2 in a large number of affected families. Methods: We excluded CMT Type 1, hereditary neuropathy with liability to pressure palsies, and CMT due to Cx32 gene mutations by DNA analysis. We performed genetic analysis of the presently known CMT Type 2 genes. Results: Sixty-one persons from 18 families were affected. Ninety percent of patients were able to walk with or without the help of aids. Proximal leg muscle weakness was present in 13%. Asymmetrical features were present in 15%. Normal or brisk knee reflexes were present in 36%. Extensor plantar responses without associated spasticity occurred in 10 patients from eight families. Only three causative mutations were identified in the MFN2, BSCL2, and RAB7 genes. No mutations were found in the NEFL, HSPB1, HSPB8, GARS, DNM2, and GDAP1 genes. Conclusions: At group level, the clinical phenotype of Charcot-Marie-Tooth disease (CMT) Type 2 is uniform, with symmetric, distal weakness, atrophy and sensory disturbances, more pronounced in the legs than in the arms, notwithstanding the genetic heterogeneity. Brisk reflexes, extensor plantar responses, and asymmetrical muscle involvement can be considered part of the CMT Type 2 phenotype. The causative gene mutation was found in only 17% of the families we studied.