Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients.
Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients.
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DOI：
10.3969/j.issn.1673-5374.2012.32.006
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发表时间：
2012-11-15
影响因子：
6.1
通讯作者：
Zhang R
中科院分区：
文献类型：
--
作者：
Li X;Zi X;Li L;Zhan Y;Huang S;Li J;Li X;Li X;Hu Z;Xia K;Tang B;Zhang R
我们采用等位基因特异性pcr -外周髓鞘蛋白22 （PMP22）双消化法测定了1型腓骨肌萎缩症家族和1型遗传性神经病变家族的先证和家族成员的重复和缺失突变。先证者和1名1型家族亚临床成员存在PMP22基因重复；1例遗传性神经病变伴压性麻痹家族患者PMP22基因缺失。来自两个先证者的腓浅神经超薄切片的电镜分析显示，在Charcot-Marie-Tooth病1A型患者中，脱髓鞘和髓鞘增生以及“洋葱样”结构。我们观察到遗传性神经病变患者的不规则增厚髓鞘和“老鼠啃噬”样变化，易发生压迫性麻痹。夏-玛丽-图斯病1A型患者，神经电生理检查显示双侧正中神经、尺神经、胫神经和腓肠神经的运动和感觉传导速度中度至重度降低。复合肌动作电位幅值降低。遗传性神经病伴压迫性麻痹患者，双侧胫神经、腓肠神经神经传导速度中度降低，双上肢正中神经、尺神经神经传导速度轻度降低。
We used the allele-specific PCR-double digestion method on peripheral myelin protein 22 (PMP22) to determine duplication and deletion mutations in the proband and family members of one family with Charcot-Marie-Tooth disease type 1 and one family with hereditary neuropathy with liability to pressure palsies. The proband and one subclinical family member from the Charcot-Marie-Tooth disease type 1 family had a PMP22 gene duplication; one patient from the hereditary neuropathy with liability to pressure palsies family had a PMP22 gene deletion. Electron microscopic analysis of ultrathin sections of the superficial peroneal nerve from the two probands demonstrated demyelination and myelin sheath hyperplasia, as well as an ‘onion-like’ structure in the Charcot-Marie-Tooth disease type 1A patient. We observed an irregular thickened myelin sheath and ‘mouse-nibbled’-like changes in the patient with hereditary neuropathy with liability to pressure palsies. In the Charcot-Marie-Tooth disease type 1A patient, nerve electrophysiological examination revealed moderate-to-severe reductions in the motor and sensory conduction velocities of the bilateral median nerve, ulnar nerve, tibial nerve, and sural nerve. Moreover, the compound muscle action potential amplitude was decreased. In the patient with hereditary neuropathy with liability to pressure palsies, the nerve conduction velocity of the bilateral tibial nerve and sural nerve was moderately reduced, and the nerve conduction velocity of the median nerve and ulnar nerve of both upper extremities was slightly reduced.
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