Department of Neurology, Peking University First Hospital, Beijing 100034, China.
Biomed Res Int. 2017;2017:6481367. doi: 10.1155/2017/6481367. Epub 2017 Aug 1.
Charcot-Marie-Tooth 1A (CMT1A) caused by peripheral myelin protein 22 () gene duplication is the most common form of hereditary polyneuropathy. Twenty-four genetically confirmed CMT1A patients with sural nerve biopsies were enrolled in this study. The clinical picture included a great variability of phenotype with mean onset age of 22.2 ± 14.5 years (1-55 years). Pathologically, we observed a severe reduction in myelinated fiber density showing three types of changes: pure onion bulb formation in 3 cases (12.5%), onion bulb formation with axonal sprouts in 10 cases (41.7%), and focally thickened myelin with onion bulb formation or/and axonal sprouts in 11 cases (45.8%). We observed no significant correlation between nerve fiber density and disease duration. There was no significant difference between the 3 pathological types in terms of clinical manifestations, nerve fiber density, and -ratio. Our study indicates that there is marked variability in the age of onset of CMT1A, as well as significant pathological changes without deterioration with the development of the disease. Focally thickened myelin is another common morphological feature of demyelination.
腓骨肌萎缩症 1A（CMT1A）由周围髓鞘蛋白 22（）基因重复引起，是最常见的遗传性多发性神经病。本研究纳入了 24 例经基因证实的 CMT1A 患者的腓肠神经活检。临床表现存在明显的表型多样性，平均发病年龄为 22.2±14.5 岁（1-55 岁）。病理观察到有髓神经纤维密度严重减少，表现为三种变化：3 例（12.5%）单纯洋葱球形成，10 例（41.7%）洋葱球形成伴轴突芽生，11 例（45.8%）局部髓鞘增厚伴洋葱球形成和/或轴突芽生。我们发现神经纤维密度与病程之间无显著相关性。在临床表现、神经纤维密度和 -比值方面，三种病理类型之间无显著差异。我们的研究表明 CMT1A 的发病年龄存在明显的变异性，并且在疾病发展过程中没有出现明显的恶化。局部髓鞘增厚是脱髓鞘的另一种常见形态学特征。
