Contactin-Associated Protein-Like 2-Related Peripheral Nerve Hyperexcitability Associated With Charcot-Marie-Tooth Type 4F.

接触素相关的蛋白质样 2 相关的周围神经兴奋过度与 Charcot - Marie - Tooth 4F 型相关。

• 发表时间: Apr 2023
• 来源期刊: Neurohospitalist
• DOI: 10.1177/19418744221140182
• PMID: 37064943
• 文章类型: Journal Article
• 作者列表: Ferrara JM,Wiid M,Burke S

关键词: charcot-marie-tooth type 4F; contactin-associated protein-like 2; dejerine-sottas neuropathy; isaac syndrome; morvan syndrome; neuromyotonia; periaxin gene; peripheral nerve hyperexcitability

Abstract

Contactin-associated protein-like 2 autoimmunity is an uncommon disorder resulting in peripheral nerve hyperexcitability or encephalitis. In a fifth of cases, onset may be provoked by thymoma, but other associations are largely unknown. We report a patient with anti-contactin-associated protein-like 2-related peripheral nerve hyperexcitability arising in the setting of Charcot-Marie-Tooth type 4F and discuss potential mechanisms underlying the association.

摘要

接触素相关蛋白样2自身免疫是一种罕见的疾病，可导致周围神经兴奋过度或脑炎。在五分之一的案例中，可能是由胸腺瘤引起的，但是其他关联在很大程度上是未知的。我们报告了在Charcot-Marie-Tooth4F型环境中出现抗接触蛋白相关蛋白样2相关周围神经兴奋过度的患者，并讨论了这种关联的潜在机制。