Encephalitis and GABAB receptor antibodies Novel findings in a new case series of 20 patients
Encephalitis and GABAB receptor antibodies Novel findings in a new case series of 20 patients
复制标题
DOI：
10.1212/wnl.0b013e3182a9585f
复制
发表时间：
2013-10-22
期刊：
影响因子：
9.9
通讯作者：
Graus, Francesc
中科院分区：
文献类型：
--
作者：
Hoeftberger, Romana;Titulaer, Maarten J.;Graus, Francesc
目的：报道20例新诊断的GABA(B)受体（GABA(B)R）抗体患者的临床特征，并测定相关肿瘤及并发神经元自身抗体的频率。方法：回顾性收集临床资料并进行评价。使用先前报道的方法检查血清和脑脊液样本是否有其他抗体。结果：17例患者表现为癫痫发作、记忆丧失和精神错乱，符合边缘脑炎（LE）， 1例患者表现为共济失调，1例患者表现为癫痫持续状态，1例患者表现为眼阵挛-肌阵挛综合征（OMS）。19例（95%）患者在病程中最终发展为LE。10例（50%）患者确诊为小细胞肺癌（SCLC），均为LE。19例患者的治疗和结果：15例患者在类固醇、静脉注射免疫球蛋白或血浆交换和肿瘤治疗后显示完全（n = 7）或部分（n = 8）神经系统改善；1例患者在第一周期免疫治疗后不久因肿瘤进展死亡，3例患者未接受治疗。5例SCLC患者有额外的非常规抗体（Ri、amphiphysin或SOX1）， 2例无肿瘤患者分别有GAD65和NMDAR抗体。116例无神经症状的SCLC患者血清中未检出GABA(B)R抗体。结论：我们的研究证实了GABA(B)R是副肿瘤性和非副肿瘤性LE的自身抗原，并扩展了GABA(B)R抗体在共济失调、OMS和癫痫持续状态中的表型。长期预后取决于肿瘤的存在。识别与GABA(B)R抗体相关的综合征很重要，因为它们通常对治疗有反应。
Objective: To report the clinical features of 20 newly diagnosed patients with GABA(B) receptor (GABA(B)R) antibodies and determine the frequency of associated tumors and concurrent neuronal autoantibodies.Methods: Clinical data were retrospectively obtained and evaluated. Serum and CSF samples were examined for additional antibodies using methods previously reported.Results: Seventeen patients presented with seizures, memory loss, and confusion, compatible with limbic encephalitis (LE), one patient presented with ataxia, one patient presented with status epilepticus, and one patient presented with opsoclonus-myoclonus syndrome (OMS). Nineteen (95%) patients eventually developed LE during the course of the disease. Small-cell lung cancer (SCLC) was identified in 10 (50%) patients, all with LE. Treatment and outcome was available from 19 patients: 15 showed complete (n = 7) or partial (n = 8) neurologic improvement after steroids, IV immunoglobulins, or plasma exchange and oncologic treatment when indicated; 1 patient died of tumor progression shortly after the first cycle of immunotherapy, and 3 were not treated. Five patients with SCLC had additional onconeuronal antibodies (Ri, amphiphysin, or SOX1), and 2 without tumor had GAD65 and NMDAR antibodies, respectively. GABA(B)R antibodies were not detected in serum of 116 patients with SCLC without neurologic symptoms.Conclusion: Our study confirms GABA(B)R as an autoantigen of paraneoplastic and nonparaneoplastic LE and expands the phenotype of GABA(B)R antibodies to ataxia, OMS, and status epilepticus. The long-term prognosis is dictated by the presence of a tumor. Recognition of syndromes associated with GABA(B)R antibodies is important because they usually respond to treatment.