Department of Neurology, Universitätsklinikum Würzburg, Würzburg, Germany.
J Neurol. 2012 Sep;259(9):1879-87. doi: 10.1007/s00415-012-6432-7. Epub 2012 Feb 4.
Given the availability of effective but costly treatment for acquired demyelinating neuropathies, biomarkers for these disorders are urgently needed. Here we aimed to quantify morphological abnormalities of myelinated fibers in skin biopsies from the proximal leg of patients with neuropathies to determine a potential diagnostic role of this method. We used double immunofluorescence to detect myelinated and unmyelinated fibers in thigh skin from 81 patients with polyneuropathy, 19 patients with small fiber neuropathy, and 25 controls. Dermal myelinated fibers were reduced 6.8-fold in patients with polyneuropathy (p < 0.0001). The number of dermal nerve bundles with myelinated fibers was reduced 2.7-fold (p = 0.0025). In small fiber neuropathy, myelinated fibers in dermal nerve bundles were only reduced in the length-dependent type, indicating that this subgroup may represent an early stage of generalized polyneuropathy. Elongated nodes of Ranvier were detectable in demyelinating neuropathies only. Our data suggest that changes in the number and morphology of myelinated fibers in the proximal leg can confirm the diagnosis of neuropathy, and may help to distinguish between demyelinating and axonal neuropathy, and to differentiate pure small fiber neuropathy from early polyneuropathy.
鉴于获得性脱髓鞘神经病有有效的但昂贵的治疗方法，因此迫切需要这些疾病的生物标志物。在这里，我们旨在定量分析神经病患者小腿近端皮肤活检中髓鞘纤维的形态异常，以确定该方法的潜在诊断作用。我们使用双重免疫荧光法检测了 81 名多发性神经病患者、19 名小纤维神经病患者和 25 名对照者大腿皮肤中的有髓和无髓纤维。多发性神经病患者的皮肤有髓纤维减少了 6.8 倍（p<0.0001）。有髓纤维的皮肤神经束数量减少了 2.7 倍（p=0.0025）。在小纤维神经病中，只有在长度依赖性类型中，皮肤神经束中的有髓纤维才减少，这表明该亚组可能代表广义多发性神经病的早期阶段。脱髓鞘神经病中仅可检测到Ranvier 结的延长。我们的数据表明，近端腿部有髓纤维数量和形态的变化可以确认神经病的诊断，并可能有助于区分脱髓鞘和轴突神经病，以及将单纯小纤维神经病与早期多发性神经病区分开来。
