Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion
Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion
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DOI：
10.1212/wnl.52.7.1440
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发表时间：
1999-04-22
期刊：
影响因子：
9.9
通讯作者：
Bouche, P
中科院分区：
文献类型：
--
作者：
Mouton, P;Tardieu, S;Bouche, P
目的：研究17p11.2缺失的临床和电生理特点。背景资料：17p11.2缺失与大多数复发性急性神经麻痹患者相关，这是遗传性神经病易患压力性麻痹（HNPP）的典型表现。然而，一些其他的表型已被报道。研究方法：在临床和电生理数据的基础上，作者对1993年至1997年期间在神经发生科就诊的99例17p11.2缺失患者进行了回顾性研究。结果如下：除了HNPP的典型表现外，他们还描述了15名患者的其他5种表型：复发性位置性短期感觉症状，进行性单神经病，Charcot-Marie-Tooth病样多发性神经病，慢性感觉性多发性神经病和慢性炎性脱髓鞘性多发性神经病样复发性亚急性多发性神经病;和14名无症状患者。在所有缺失携带者中，无论其表型如何，到第二个十年，作者发现了一种特征性的多灶性电生理性神经病，包括与正常或中度降低的运动神经传导速度相比，远端运动神经传导速度弥漫性增加;感觉神经动作电位弥漫性降低，以及常见卡压部位的神经传导多灶性减慢。关键诊断标准是腕管感觉和运动神经传导双侧减慢，其中一条腓神经至少有一个运动传导参数异常。总结：作者证实了17p11.2缺失的临床表型异质性，并建议电生理检查是筛选各种临床表现的疑似HNPP患者的可靠工具。
Objective: To study the clinical and electrophysiologic features of a large series of carriers of the 17p11.2 deletion. Background: The 17p11.2 deletion is associated in most patients with recurrent acute nerve palsies, which is the typical presentation of hereditary neuropathy with liability to pressure palsies (HNPP). Nevertheless, a few other phenotypes have been reported. Methods: On the basis of clinical and electrophysiologic data, the authors conducted a retrospective study of 99 individuals with the 17p11.2 deletion referred to their neurogenetic department between 1993 and 1997. Results: In addition to the typical presentation of HNPP, they describe five other phenotypes in 15 patients: recurrent positional short-term sensory symptoms, progressive mononeuropathy, Charcot-Marie-Tooth disease-like polyneuropathy, chronic sensory polyneuropathy, and chronic inflammatory demyelinating polyneuropathy-like, recurrent subacute polyneuropathy; and 14 asymptomatic patients. In all the deletion carriers, regardless of their phenotype and by the second decade, the authors found a characteristic, multifocal electrophysiologic neuropathy consisting of a diffuse increase in distal motor latencies contrasting with normal or moderately reduced motor nerve conduction velocities; a diffuse reduction in sensory nerve action potential, and multiple focal slowing of nerve conduction at the usual sites of entrapment. The key diagnostic criterion is a bilateral slowing of sensory and motor nerve conduction at the carpal tunnel with at least one abnormal parameter for motor conduction in one peroneal nerve. Conclusion: The authors confirm the clinical phenotypic heterogeneity of the 17p11.2 deletion and suggest that electrophysiologic examination is a reliable tool for screening suspected HNPP patients in its various clinical presentations.