Schenone A, Abbruzzese M, Uccelli A, Mandich P, James R, Bellone E, Giunchedi M, Rolando S, Capello E, Mandich R [corrected to Mandich P ]
Institute of Neurology, University of Genoa, Italy.
J Neurol Sci. 1994 Mar;122(1):20-7. doi: 10.1016/0022-510x(94)90047-7.
We describe 3 patients affected by a congenital motor and sensory neuropathy with excessive myelin outfoldings (MOs). Clinical and electrophysiological features supported the diagnosis of hereditary motor and sensory neuropathy (HMSN). The genetic study failed to demonstrate either the duplication in chromosome 17p11.2 or the mutations at exons 1 and 2 of the myelin protein gene, PMP-22, recently observed in HMSN type Ia, and suggested an autosomal recessive (AR) inheritance. Sural nerve biopsy revealed a demyelinating process with prominent hypertrophic changes and excessive MOs formation. The percentage of MOs was significantly higher than in 3 age-matched HMSN Ia patients. MOs were morphologically and morphometrically different from tomacular-like thickenings of myelin. Myelin thickness was significantly lower than in the three HMSN Ia controls and linear regression showed a thinner myelin related to axon diameter. The reported cases demonstrate that HMSN with MOs is a well defined variant of HMSN and that a primary defect in the myelination process may be proposed as a possible pathogenic mechanism.
我们描述了3例患有先天性运动和感觉神经病变且伴有过多髓鞘折叠（MOs）的患者。临床和电生理特征支持遗传性运动和感觉神经病变（HMSN）的诊断。基因研究未能证实17p11.2染色体的重复，也未发现最近在HMSN Ia型中观察到的髓鞘蛋白基因PMP - 22外显子1和2的突变，并提示为常染色体隐性（AR）遗传。腓肠神经活检显示脱髓鞘过程伴有明显的肥厚性改变和过多的MOs形成。MOs的百分比显著高于3例年龄匹配的HMSN Ia患者。MOs在形态和形态计量学上与髓鞘的斑点状增厚不同。髓鞘厚度显著低于3例HMSN Ia对照，线性回归显示与轴突直径相关的髓鞘更薄。所报道的病例表明，伴有MOs的HMSN是HMSN的一种明确变体，并且可以提出髓鞘形成过程中的原发性缺陷作为一种可能的致病机制。
