Familial, demyelinating sensory and motor polyneuropathy with conduction block.

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY Muscle & Nerve Pub Date : 2010-04-01 DOI:10.1002/mus.21558

Stephen N Scelsa

引用次数: 8

Abstract

Both multifocal, demyelinating features and prednisone responsiveness are rare in Charcot-Marie-Tooth (CMT) disease. We report a mother and son with a prednisone-responsive, multifocal, demyelinating, predominantly sensory polyneuropathy that was associated with an isoleucine92valine polymorphism of lipopolysaccharide-induced TNF-alpha factor (LITAF). The mother had a multifocal, acquired, demyelinating sensory and motor polyneuropathy (MADSAM)-like presentation. The son developed left peroneal neuropathy during acute Lyme disease with a subsequent relapsing, MADSAM-like illness, despite antibiotic treatment. Both shared prednisone responsiveness and multifocal, demyelinating features electrophysiologically. MADSAM may be familial (FaDSAM) and respond to prednisone.

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家族性脱髓鞘感觉和运动多神经病变伴传导阻滞。

多灶性、脱髓鞘特征和强的松反应在CMT疾病中都很少见。我们报告了一对患有强的松反应性，多灶性，脱髓鞘，主要感觉多神经病变的母子，该病变与脂多糖诱导的tnf - α因子(LITAF)的异亮氨酸92 -缬氨酸多态性相关。母亲有多灶性，获得性，脱髓鞘感觉和运动多神经病变(MADSAM)样表现。儿子在急性莱姆病期间出现左腓神经病变，随后复发，尽管进行了抗生素治疗，但仍出现madsam样疾病。两者都具有强的松反应性和多灶性，脱髓鞘电生理特征。MADSAM可能是家族性的(FaDSAM)，对强的松有反应。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Muscle & Nerve 医学-临床神经学

CiteScore

6.40

自引率

5.90%

发文量

287

审稿时长

3-6 weeks

期刊介绍： Muscle & Nerve is an international and interdisciplinary publication of original contributions, in both health and disease, concerning studies of the muscle, the neuromuscular junction, the peripheral motor, sensory and autonomic neurons, and the central nervous system where the behavior of the peripheral nervous system is clarified. Appearing monthly, Muscle & Nerve publishes clinical studies and clinically relevant research reports in the fields of anatomy, biochemistry, cell biology, electrophysiology and electrodiagnosis, epidemiology, genetics, immunology, pathology, pharmacology, physiology, toxicology, and virology. The Journal welcomes articles and reports on basic clinical electrophysiology and electrodiagnosis. We expedite some papers dealing with timely topics to keep up with the fast-moving pace of science, based on the referees'' recommendation.