EA 4391, Faculté de Médecine, Université Paris Est Créteil, Créteil, France.
Service de Physiologie, Explorations Fonctionnelles, Unité de Neurophysiologie Clinique, Hôpital Henri Mondor, Assistance Publique - Hôpitaux de Paris, Créteil, France.
Eur J Neurol. 2019 Jan;26(1):94-e10. doi: 10.1111/ene.13774. Epub 2018 Sep 12.
Distal involvement of autonomic nerve fibers is critical in familial amyloid polyneuropathy (FAP) due to transthyretin (TTR) mutation. This study compares different methods for assessing autonomic foot innervation in TTR-FAP patients.
Three groups of seven TTR-FAP patients were included, according to disease severity: clinically asymptomatic, moderate or advanced neuropathy. The autonomic investigation included the eutectic mixture of local anesthetics test and laser Doppler flowmetry for vasomotor aspects and the Sudoscan® (measuring electrochemical skin conductance) and Neuropad® test for sudomotor aspects. Somatic innervation was assessed by performing nerve conduction studies, quantitative sensory testing [including vibration, cold and warm detection threshold (WDT) measurements] and laser evoked potentials.
The results of all neurophysiological tests varied according to TTR-FAP severity (P ≤ 0.01, Kruskal-Wallis test), except for the eutectic mixture of local anesthetics test and laser Doppler flowmetry variables. In addition, the sudomotor tests (Sudoscan or Neuropad) or WDT measurement provided early markers of neuropathy in two of the seven asymptomatic carriers. Finally, all neurophysiological results correlated with the Neuropathy Impairment Score (r values between -0.88 and -0.66, P < 0.005, Spearman test), except the cold detection threshold.
The Neuropad test could be used to detect TTR-FAP onset, but confirmation requires electrochemical skin conductance and WDT measurement. The Sudoscan technique, but not the Neuropad test (at least assessed at a fixed time point), could be valuable to follow the progression of the neuropathy. Follow-up investigation should also include large-fiber investigation (e.g. nerve conduction studies and vibration detection threshold). Conversely, reliable tests for assessing vasomotor disturbances in limb extremities of TTR-FAP patients are still awaited.
由于转甲状腺素蛋白（TTR）突变，自主神经纤维的远端受累在家族性淀粉样多神经病（FAP）中至关重要。本研究比较了评估 TTR-FAP 患者自主神经足部神经支配的不同方法。
根据疾病严重程度，将三组共七名 TTR-FAP 患者纳入研究：临床无症状、中度或晚期神经病。自主神经检查包括局部麻醉剂混合物的 eutectic 试验和激光多普勒血流计进行血管运动方面的检查，以及 Sudoscan®（测量电化学皮肤电导）和 Neuropad®测试进行出汗方面的检查。躯体神经支配通过进行神经传导研究、定量感觉测试（包括振动、冷觉和温觉检测阈值（WDT）测量）和激光诱发电位来评估。
除局部麻醉剂混合物试验和激光多普勒血流计变量外，所有神经生理测试的结果均根据 TTR-FAP 严重程度而变化（P≤0.01，Kruskal-Wallis 检验）。此外，在七名无症状携带者中的两名中，出汗测试（Sudoscan 或 Neuropad）或 WDT 测量提供了神经病的早期标志物。最后，所有神经生理结果均与神经病变损伤评分（r 值在-0.88 至-0.66 之间，P<0.005，Spearman 检验）相关，除冷觉检测阈值外。
Neuropad 测试可用于检测 TTR-FAP 的发病，但需通过电化学皮肤电导和 WDT 测量来确认。Sudoscan 技术（至少在固定时间点评估）而非 Neuropad 测试可能对监测神经病的进展有价值。随访检查还应包括大纤维检查（例如神经传导研究和振动检测阈值）。相反，仍然需要可靠的测试来评估 TTR-FAP 患者肢体末端的血管运动障碍。
