用于检测转甲状腺素蛋白淀粉样变性多发性神经病中小纤维早期功能障碍的神经生理学技术。
Neurophysiological techniques to detect early small-fiber dysfunction in transthyretin amyloid polyneuropathy.
机构信息
Department of Neurosciences, Centro Hospitalar Lisboa Norte- Hospital de Santa Maria, Av Prof Egas Moniz, 1649-028, Lisbon, Portugal; Translational and Clinical Physiology Unit, Instituto de Medicina Molecular, Faculty of Medicine, Lisbon, Portugal.
出版信息
Muscle Nerve. 2014 Feb;49(2):181-6. doi: 10.1002/mus.23901. Epub 2013 Aug 20.
INTRODUCTION
Transthyretin familial amyloid polyneuropathy (TTR-FAP) is characterized by early selective involvement of small nerve fibers. Initial clinical diagnosis is complicated by psychosocial factors. We evaluated diagnostic accuracy of sural sensory nerve action potentials, plantar sympathetic skin response (SSR), and cortical laser-evoked potentials (LEP) to dorsal foot stimulation in the early diagnosis of TTR-FAP.
METHODS
Sixty-three subjects with TTR-FAP (Val30Met) mutation were split into 2 groups (asymptomatic carriers and early-symptomatic patients) and compared with 33 healthy controls.
RESULTS
The diagnostic accuracy of plantar SSR amplitude and LEP N2 latency was similar; all had very high specificity (94 to 97%) but low sensitivity (22 to 32%) in distinguishing controls from carriers and early-symptomatic patients. No control had abnormal results on both tests.
CONCLUSIONS
Plantar SSR and LEPs have similar diagnostic performance in detecting small-fiber dysfunction in early TTR-FAP; we propose that both tests should be used to investigate this population. Muscle Nerve 49: 181-186, 2014.
简介
转甲状腺素蛋白家族性淀粉样多发性神经病（TTR-FAP）的特征是小纤维的早期选择性受累。初始临床诊断受到社会心理因素的影响而变得复杂。我们评估了腓肠感觉神经动作电位、足底交感皮肤反应（SSR）和皮质激光诱发电位（LEP）对足背刺激在 TTR-FAP 早期诊断中的诊断准确性。
方法
63 名 TTR-FAP（Val30Met）突变患者被分为 2 组（无症状携带者和早期症状患者），并与 33 名健康对照进行比较。
结果
足底 SSR 幅度和 LEP N2 潜伏期的诊断准确性相似；在区分对照组和携带者及早期症状患者时，所有指标的特异性均非常高（94%至 97%），但敏感性较低（22%至 32%）。没有一个对照组在这两项检查中都出现异常。
结论
足底 SSR 和 LEP 在检测早期 TTR-FAP 中小纤维功能障碍方面具有相似的诊断性能；我们建议同时使用这两项检查来对该人群进行调查。《肌肉神经》49: 181-186, 2014.
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