Ances Beau M, Vitaliani Roberta, Taylor Robert A, Liebeskind David S, Voloschin Alfredo, Houghton David J, Galetta Steven L, Dichter Marc, Alavi Abass, Rosenfeld Myrna R, Dalmau Josep
Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.
Brain. 2005 Aug;128(Pt 8):1764-77. doi: 10.1093/brain/awh526. Epub 2005 May 11.
We report seven patients, six from a single institution, who developed subacute limbic encephalitis initially considered of uncertain aetiology. Four patients presented with symptoms of hippocampal dysfunction (i.e. severe short-term memory loss) and three with extensive limbic dysfunction (i.e. confusion, seizures and suspected psychosis). Brain MRI and [(18)F]fluorodeoxyglucose (FDG)-PET complemented each other but did not overlap in 50% of the patients. Combining both tests, all patients had temporal lobe abnormalities, five with additional areas involved. In one patient, FDG hyperactivity in the brainstem that was normal on MRI correlated with central hypoventilation; in another case, hyperactivity in the cerebellum anticipated ataxia. All patients had abnormal CSF: six pleocytosis, six had increased protein concentration, and three of five examined had oligoclonal bands. A tumour was identified and removed in four patients (mediastinal teratoma, thymoma, thymic carcinoma and thyroid cancer) and not treated in one (ovarian teratoma). An immunohistochemical technique that facilitates the detection of antibodies to cell surface or synaptic proteins demonstrated that six patients had antibodies to the neuropil of hippocampus or cerebellum, and one to intraneuronal antigens. Only one of the neuropil antibodies corresponded to voltage-gated potassium channel (VGKC) antibodies; the other five (two with identical specificity) reacted with antigens concentrated in areas of high dendritic density or synaptic-enriched regions of the hippocampus or cerebellum. Preliminary characterization of these antigens indicates that they are diverse and expressed on the neuronal cell membrane and dendrites; they do not co-localize with VGKCs, but partially co-localize with spinophilin. A target autoantigen in one of the patients co-localizes with a cell surface protein involved in hippocampal dendritic development. All patients except the one with antibodies to intracellular antigens had dramatic clinical and neuroimaging responses to immunotherapy or tumour resection; two patients had neurological relapse and improved with immunotherapy. Overall, the phenotype associated with the novel neuropil antibodies includes dominant behavioural and psychiatric symptoms and seizures that often interfere with the evaluation of cognition and memory, and brain MRI or FDG-PET abnormalities less frequently restricted to the medial temporal lobes than in patients with classical paraneoplastic or VGKC antibodies. When compared with patients with VGKC antibodies, patients with these novel antibodies are more likely to have CSF inflammatory abnormalities and systemic tumours (teratoma and thymoma), and they do not develop SIADH-like hyponatraemia. Although most autoantigens await characterization, all share intense expression by the neuropil of hippocampus, with patterns of immunolabelling characteristic enough to suggest the diagnosis of these disorders and predict response to treatment.
我们报告了7例患者,其中6例来自同一机构,他们最初被诊断为病因不明的亚急性边缘叶脑炎。4例患者出现海马功能障碍症状(即严重的短期记忆丧失),3例出现广泛的边缘叶功能障碍(即意识模糊、癫痫发作和疑似精神病)。脑部MRI和[18F]氟脱氧葡萄糖(FDG)-PET相互补充,但在50%的患者中并不重叠。综合两项检查,所有患者均有颞叶异常,5例还涉及其他区域。1例患者脑干FDG高代谢,MRI表现正常,与中枢性通气不足相关;另1例患者小脑高代谢预示共济失调。所有患者脑脊液均异常:6例有细胞增多,6例蛋白浓度升高,5例检查中有3例出现寡克隆带。4例患者发现并切除了肿瘤(纵隔畸胎瘤、胸腺瘤、胸腺癌和甲状腺癌),1例(卵巢畸胎瘤)未治疗。一种有助于检测细胞表面或突触蛋白抗体的免疫组化技术表明,6例患者有海马或小脑神经毡抗体,1例有神经元内抗原抗体。神经毡抗体中只有1例对应电压门控钾通道(VGKC)抗体;其他5例(其中2例特异性相同)与集中在海马或小脑高树突密度区域或突触丰富区域的抗原发生反应。这些抗原的初步特征表明它们多种多样,表达于神经元细胞膜和树突上;它们不与VGKC共定位,但部分与亲嗜素共定位。1例患者的靶自身抗原与参与海马树突发育的细胞表面蛋白共定位。除1例有神经元内抗原抗体的患者外,所有患者对免疫治疗或肿瘤切除均有显著的临床和神经影像学反应;2例患者出现神经复发,经免疫治疗后好转。总体而言,与新型神经毡抗体相关的表型包括占主导地位的行为和精神症状以及癫痫发作,这些常常干扰认知和记忆的评估,脑部MRI或FDG-PET异常较经典副肿瘤或VGKC抗体患者更少局限于内侧颞叶。与VGKC抗体患者相比,这些新型抗体患者更易出现脑脊液炎症异常和系统性肿瘤(畸胎瘤和胸腺瘤),且不发生类似抗利尿激素分泌异常综合征的低钠血症。尽管大多数自身抗原有待进一步鉴定,但它们均在海马神经毡中强烈表达,免疫标记模式具有足够特征,有助于提示这些疾病的诊断并预测治疗反应。