From the Neuromuscular Diseases Unit, Department of Neurology (L.M.-A., E.P.-G., C.L., J.D.-M., E.C.-V., R.R.-G., L.Q.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (M.F., H.A., T.S.), Hospital Universitari i Politècnic La Fe, Valencia; Service of Neurology (A.C.-A., A.L.P.-N.), University Hospital Marqués de Valdecilla (IDIVAL), University of Cantabria, Santander; Centro para la Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.-R.G., L.Q.), Madrid; and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (A.L.P.-N.), Santander, Spain.
Neurology. 2020 Jul 28;95(4):e427-e433. doi: 10.1212/WNL.0000000000009189. Epub 2020 Feb 26.
To study the presence of nodal and paranodal immunoglobulin M (IgM) and immunoglobulin G (IgG) antibodies in patients with genetic neuropathies.
A total of 108 patients with genetic neuropathies from 3 different centers were included. The presence of IgG and IgM antibodies against neurofascin-155 (NF155), nodal neurofascin (NF186 and NF140), and contactin-1 (CNTN1) were investigated with a cell-based assay (CBA) using immunocytochemistry in transfected HEK293 cells. Sera with positive or uncertain results were further tested by ELISA and immunohistochemistry in pig teased-nerve fibers.
Six patients with Charcot-Marie-Tooth disease (CMT) had an uncertain staining pattern for IgM against nodal neurofascin that was not confirmed by ELISA. Two patients with CMT had an uncertain staining pattern for IgG against nodal neurofascin that was not confirmed by ELISA or immunohistochemistry. One patient with CMT with a confirmed mutation tested positive for IgG against NF155 by CBA and ELISA (1/900), but was not confirmed by immunohistochemistry and was ultimately classified as negative.
Antibodies against nodal or paranodal antigens were not detected in our cohort of patients with CMT, as previously reported. Some patients may falsely test positive for any of the techniques; confirmatory techniques should be incorporated into the routine testing.
研究遗传性神经病患者神经节和神经旁免疫球蛋白 M（IgM）和免疫球蛋白 G（IgG）抗体的存在情况。
共纳入来自 3 个不同中心的 108 例遗传性神经病患者。使用转染 HEK293 细胞的免疫细胞化学，通过细胞基础测定法（CBA）检测针对神经束蛋白 155（NF155）、神经节神经束蛋白（NF186 和 NF140）和接触蛋白 1（CNTN1）的 IgG 和 IgM 抗体的存在。对具有阳性或不确定结果的血清进一步通过 ELISA 和猪 teased-nerve 纤维免疫组化进行检测。
6 例遗传性运动感觉神经病（CMT）患者的神经节免疫球蛋白 M 染色模式不确定，ELISA 未能证实。2 例 CMT 患者的神经节 IgG 染色模式不确定，ELISA 或免疫组化未能证实。1 例 CMT 患者携带经证实的 突变，通过 CBA 和 ELISA 检测到 NF155 的 IgG 呈阳性（1/900），但免疫组化未能证实，最终被归类为阴性。
正如先前报道的那样，我们的 CMT 患者队列中未检测到针对神经节或神经旁抗原的抗体。某些患者可能会错误地对任何一种技术呈阳性；应将确认性技术纳入常规检测。
