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CANOMAD 和其他带有二唾液酸抗体的慢性共济失调性神经病(CANDA)。

CANOMAD and other chronic ataxic neuropathies with disialosyl antibodies (CANDA).

机构信息

Division of Neuromuscular Medicine, Department of Neurology, Washington University in St. Louis, 660 S Euclid Ave, Box 8111, St. Louis, MO, 63110, USA.

出版信息

J Neurol. 2018 Jun;265(6):1402-1409. doi: 10.1007/s00415-018-8853-4. Epub 2018 Apr 9.

Abstract

INTRODUCTION

CANOMAD/CANDA are syndromes characterized by ataxic neuropathy, ophthalmoplegia, monoclonal gammopathy, cold agglutinins and disialosyl antibodies.

METHODS

A retrospective review of our neuromuscular autoantibody panel database was performed. Anti-GD1b seropositive patients with ataxia were included.

RESULTS

Eleven patients were identified. Median age at onset was 56 years. Median disease duration was 6 years. All patients had gait disorders. Nine had ocular motility abnormalities. Most had a monoclonal protein and all had elevated serum IgM. Electrodiagnostic studies showed a mixed axonal/demyelinating pattern (6), an axonal pattern (4), or a pure demyelinating pattern (1). Ultrasounds showed nerve enlargement patterns consistent with acquired demyelination. A nerve biopsy showed near complete loss of myelinated axons with preservation of smaller axons. Rituximab was the most effective immunotherapy.

CONCLUSION

CANOMAD/CANDA are rare and debilitating disorders with characteristic clinical and diagnostic findings. In our cohort, nerve ultrasound showed regional nerve enlargement and rituximab was the most effective immunomodulatory therapy.

摘要

简介

CANOMAD/CANDA 是以共济失调性神经病、眼肌麻痹、单克隆丙种球蛋白病、冷自身抗体和二唾液酸抗体为特征的综合征。

方法

我们对神经肌肉自身抗体检测数据库进行了回顾性研究。纳入了抗-GD1b 阳性且伴有共济失调的患者。

结果

共确定了 11 例患者。发病中位年龄为 56 岁。中位病程为 6 年。所有患者均有步态障碍,9 例存在眼球运动异常。大多数患者有单克隆蛋白,所有患者血清 IgM 升高。电诊断研究显示混合轴索/脱髓鞘模式(6 例)、轴索模式(4 例)或单纯脱髓鞘模式(1 例)。超声显示符合获得性脱髓鞘的神经增大模式。神经活检显示有髓神经轴突几乎完全丢失,而较小的轴突得以保留。利妥昔单抗是最有效的免疫疗法。

结论

CANOMAD/CANDA 是罕见且使人虚弱的疾病,具有特征性的临床和诊断特征。在我们的队列中,神经超声显示区域性神经增大,利妥昔单抗是最有效的免疫调节治疗。

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