Hereditary neuropathy with liability to pressure palsies (HNPP) is caused by heterozygous deletion of the peripheral myelin protein 22 (PMP22) gene. Patients with HNPP present multifocal, reversible sensory/motor deficits due to increased susceptibility to mechanical pressure. Additionally, age‐dependent axonal degeneration is reported. We hypothesize that length‐dependent axonal loss can be revealed by MRI, irrespective of the multifocal phenotype in HNPP.

中文翻译：

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具有压力性麻痹倾向的遗传性神经病的长度依赖性 MRI。


导致压力性麻痹的遗传性神经病 (HNPP) 是由外周髓磷脂蛋白 22 (PMP22)基因的杂合性缺失引起的。 HNPP 患者由于对机械压力的敏感性增加而出现多灶性、可逆的感觉/运动缺陷。此外，还报道了年龄依赖性轴突变性。我们假设无论 HNPP 的多灶表型如何，MRI 都可以揭示长度依赖性轴突丢失。