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Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients

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Neural Regeneration Research 2012年第32期7卷 2522-2527页

作者： Xiaobo Li Xiaohong Zi Lin Li Yajing Zhan Shunxiang Huang Jin Li Xuning Li Xigui Li Zhengmao Hu Kun Xia Beisha Tang Ruxu Zhang Department of Neurology Third Xiangya Hospital Central South University Changsha 410013 Hunan Province China Department of Ultrastructure School of Basic Medical Science Central South University Changsha 410078 Hunan Province China State Key Laboratory of Medical Genetics Central South University Changsha 410078 Hunan Province China

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＇-Iike 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.

关键词： Charcot-Marie-Tooth disease hereditary neuropathy with liability to pressure palsies peripheral myelin protein 22 gene mutation PCR-double digestion method myelin sheath action potentia neuropathology neural regeneration

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