Paraneoplastic encephalitis, psychiatric symptoms, and hypoventilation in ovarian teratoma
Paraneoplastic encephalitis, psychiatric symptoms, and hypoventilation in ovarian teratoma
复制标题
DOI：
10.1002/ana.20614
复制
发表时间：
2005-10-01
影响因子：
11.2
通讯作者：
Dalmau, J
中科院分区：
文献类型：
--
作者：
Vitaliani, R;Mason, W;Dalmau, J
我们报告四名年轻女性谁开发急性精神症状，癫痫发作，记忆缺陷，意识水平下降，中枢性低通气与卵巢畸胎瘤（OT）和脑脊液（CSF）炎症异常。三名患者通过肿瘤治疗或免疫抑制治疗恢复，一名患者死于该疾病。其他五个OT患者有类似的综合征和治疗反应的报告。我们的患者的血清或CSF显示在海马神经元和突起的细胞质膜上表达的抗原的免疫标记，并且容易被活神经元中的抗体接近。免疫探针的一个campal表达库导致EFA6A的分离，EFA6A是一种与双孔结构域钾通道家族成员相互作用的蛋白质，参与海马神经元树突发育的调节。EFA6A纯化的抗体复制了所有患者抗体的海马免疫标记，并与它们在质膜上共定位。这些结果表明，在一个年轻的女性急性精神症状，癫痫发作，中枢性肺换气不足，副肿瘤免疫介导的综合征应予以考虑。认识到这种疾病是重要的，因为尽管症状严重，患者通常会康复。分离的抗原的位置和功能表明该疾病是由抗体直接介导的。
We report four young women who developed acute psychiatric symptoms, seizures, memory deficits, decreased level of consciousness, and central hypoventilation associated with ovarian teratoma (OT) and cerebrospinal fluid (CSF) inflammatory abnormalities. Three patients recovered with treatment of the tumor or immunosuppression and one died of the disorder. Five other OT patients with a similar syndrome and response to treatment have been reported. Our patients' serum or CSF showed immunolabeling of antigens that were expressed at the cytoplasmic membrane of hippocampal neurons and processes and readily accessed by antibodies in live neurons. Immunoprobing of a hippocampal-expression library resulted in the isolation of EFA6A, a protein that interacts with a member of the two-pore-domain potassium channel family and is involved in the regulation of the dendritic development of hippocampal neurons. EFA6A-purified antibodies reproduced the hippocampal immunolabeling of all patients' antibodies and colocalized with them at the plasma membrane. These findings indicate that in a young woman with acute psychiatric symptoms, seizures, and central hypoventilation, a paraneoplastic immune-mediated syndrome should be considered. Recognition of this disorder is important because despite the severity of the symptoms, patients usually recover. The location and function of the isolated antigen suggest that the disorder is directly mediated by antibodies.