Anti-SEZ6L2 antibodies in paraneoplastic cerebellar syndrome: case report and review of the literature.

Annika Kather, Florian Holtbernd, Robert Brunkhorst, Dimah Hasan, Robert Markewitz, Klaus-Peter Wandinger, Martin Wiesmann, Jörg B Schulz, Simone C Tauber
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引用次数: 3

Abstract

Seizure Related 6 Homolog Like 2 (SEZ6L2) protein has been shown to have implications in neuronal and especially motor function development. In oncology, overexpression of SEZ6L2 serves as a negative prognostic marker in several tumor entities. Recently, few cases of anti-SEZ6L2 antibody mediated cerebellar syndromes were reported. In this article, we present a case of a 70-year-old woman with subacute onset of gait disturbance, dysarthria and limb ataxia. Serum anti-SEZ6L2 antibodies were markedly increased, and further diagnostic workup revealed left sided breast cancer. Neurological symptoms and SEZ6L2 titer significantly improved after curative tumor therapy. This is a very rare and educationally important report of anti-SEZ6L2 autoimmune cerebellar syndrome with a paraneoplastic etiology. Additionally, we performed a review of the current literature for SEZ6L2, focusing on comparing the published cases on autoimmune cerebellar syndrome.

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副肿瘤小脑综合征的抗sez6l2抗体:病例报告及文献复习。
癫痫相关6同源样物2 (SEZ6L2)蛋白已被证明与神经元,特别是运动功能的发育有关。在肿瘤学中,SEZ6L2的过表达在一些肿瘤实体中作为阴性预后标志物。近年来,抗sez6l2抗体介导的小脑综合征病例报道较少。在这篇文章中,我们提出了一个病例70岁的妇女亚急性起病的步态障碍,构音障碍和肢体共济失调。血清抗sez6l2抗体明显升高,进一步诊断为左侧乳腺癌。肿瘤治疗后神经症状及SEZ6L2滴度明显改善。这是一个非常罕见的具有副肿瘤病因的抗sez6l2自身免疫性小脑综合征的报告,具有重要的教育意义。此外,我们对SEZ6L2的现有文献进行了回顾,重点比较了已发表的自身免疫性小脑综合征病例。
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