Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy; Neurology Division, Department of Neuroscience, AOUI Verona, Verona, Italy.
Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy; Neurology Division, Department of Neuroscience, AOUI Verona, Verona, Italy.
Clin Neurophysiol. 2018 Jan;129(1):21-32. doi: 10.1016/j.clinph.2017.09.117. Epub 2017 Oct 20.
Nerve ultrasound (US) data on myelin protein zero (MPZ)-related Charcot-Marie-Tooth disease (CMT) are lacking. To offer a comprehensive perspective on MPZ-related CMTs, we combined nerve US with clinics, electrodiagnosis and histopathology.
We recruited 36 patients (12 MPZ mutations), and correlated nerve US to clinical, electrodiagnostic measures, and sural nerve biopsy.
According to motor nerve conduction velocity (MNCV) criteria, nine patients were categorized as "demyelinating" CMT1B, 17 as "axonal" CMT2I/J, and 10 as dominant "intermediate" CMTDID. Sural nerve biopsy showed hypertrophic de-remyelinating neuropathy with numerous complex onion bulbs in one patient, de-remyelinating neuropathy with scanty/absent onion bulbs in three, axonal neuropathy in two, mixed demyelinating-axonal neuropathy in five. Electrodiagnosis significantly differed in CMT1B vs. CMT2I/J and CMTDID subgroups. CMT1B had slightly enlarged nerve cross sectional area (CSA) especially at proximal upper-limb (UL) sites. CSA was negatively correlated to UL MNCV and not increased at entrapment sites. Major sural nerve pathological patterns were uncorrelated to UL nerve US and MNCV.
Sural nerve biopsy confirmed the wide pathological spectrum of MPZ-CMT. UL nerve US identified two major patterns corresponding to the CMT1B and CMT2I/J-CMTDID subgroups.
Nerve US phenotype of MPZ-CMT diverged from those in other demyelinating peripheral neuropathies and may have diagnostic value.
髓鞘蛋白零（MPZ）相关的夏科-马里-图什病（CMT）的神经超声（US）数据缺乏。为了全面了解 MPZ 相关的 CMT，我们将神经 US 与临床、电诊断和组织病理学相结合。
我们招募了 36 名患者（12 种 MPZ 突变），并将神经 US 与临床、电诊断措施和腓肠神经活检相关联。
根据运动神经传导速度（MNCV）标准，9 名患者被归类为“脱髓鞘”CMT1B，17 名患者为“轴索”CMT2I/J，10 名患者为显性“中间”CMTDID。腓肠神经活检显示 1 名患者存在肥大性脱髓鞘神经病伴大量复杂洋葱球，3 名患者存在脱髓鞘神经病伴少量/无洋葱球，2 名患者存在轴索神经病，5 名患者存在混合脱髓鞘-轴索神经病。电诊断在 CMT1B 与 CMT2I/J 和 CMTDID 亚组之间有显著差异。CMT1B 在上肢（UL）近端神经横截面积（CSA）略有增大。CSA 与 UL MNCV 呈负相关，在受压部位不增加。主要腓肠神经病理模式与 UL 神经 US 和 MNCV 不相关。
腓肠神经活检证实了 MPZ-CMT 的广泛病理谱。UL 神经 US 确定了两种主要模式，分别对应于 CMT1B 和 CMT2I/J-CMTDID 亚组。
MPZ-CMT 的神经 US 表型与其他脱髓鞘周围神经病不同，可能具有诊断价值。
