Division of Neuromuscular Medicine, Department of Neurology, Washington University in St. Louis, 660 S Euclid Ave, Box 8111, St. Louis, MO, 63110, USA.
J Neurol. 2018 Jun;265(6):1402-1409. doi: 10.1007/s00415-018-8853-4. Epub 2018 Apr 9.
CANOMAD/CANDA are syndromes characterized by ataxic neuropathy, ophthalmoplegia, monoclonal gammopathy, cold agglutinins and disialosyl antibodies.
A retrospective review of our neuromuscular autoantibody panel database was performed. Anti-GD1b seropositive patients with ataxia were included.
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.
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.
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。
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。
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。
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。