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Update in Autoimmune Movement Disorders: Newly Described Antigen Targets in Autoimmune and Paraneoplastic Cerebellar Ataxia.
Frontiers in Neurology ( IF 2.7 ) Pub Date : 2021-08-18 , DOI: 10.3389/fneur.2021.683048
Madeline Garza 1 , Amanda L Piquet 1
Affiliation  

Movement disorders are a common feature of many antibody-associated neurological disorders. In fact, cerebellar ataxia is one of the most common manifestations of autoimmune neurological diseases. Some of the first autoantibodies identified against antigen targets include anti-neuronal nuclear antibody type 1 (ANNA-1 or anti-Hu) and Purkinje cell cytoplasmic antibody (PCA-1) also known as anti-Yo have been identified in paraneoplastic cerebellar degeneration. Historically these antibodies have been associated with an underlying malignancy; however, recently discovered antibodies can occur in the absence of cancer as well, resulting in the clinical syndrome of autoimmune cerebellar ataxia. The pace of discovery of new antibodies associated with autoimmune or paraneoplastic cerebellar ataxia has increased rapidly over the last few years, and pathogenesis and potential treatment options remains to be explored. Here we will review the literature on recently discovered antibodies associated with autoimmune and paraneoplastic cerebellar ataxia including adaptor protein-3B2 (AP3B2); inositol 1,4,5-trisphophate receptor type 1 (ITPR1); tripartite motif-containing (TRIM) proteins 9, 67, and 46; neurochondrin; neuronal intermediate filament light chain (NIF); septin 5; metabotropic glutamate receptor 2 (mGluR2); seizure-related 6 homolog like 2 (SEZ6L2) and homer-3 antibodies. We will review their clinical characteristics, imaging and CSF findings and treatment response. In addition, we will discuss two clinical case examples of autoimmune cerebellar ataxia.

中文翻译:

自身免疫性运动障碍的更新:自身免疫性和副肿瘤性小脑共济失调中新描述的抗原靶点。

运动障碍是许多抗体相关神经系统疾病的共同特征。事实上,小脑性共济失调是自身免疫性神经系统疾病最常见的表现之一。最初针对抗原靶标鉴定的一些自身抗体包括抗神经元核抗体 1 型(ANNA-1 或抗 Hu)和浦肯野细胞胞质抗体 (PCA-1),也称为抗 Yo,已在副肿瘤性小脑变性中鉴定出来。从历史上看,这些抗体与潜在的恶性肿瘤有关。然而,最近发现的抗体也可以在没有癌症的情况下发生,导致自身免疫性小脑共济失调的临床综合征。在过去几年中,发现与自身免疫性或副肿瘤性小脑共济失调相关的新抗体的步伐迅速增加,发病机制和潜在的治疗选择仍有待探索。在这里,我们将回顾最近发现的与自身免疫性和副肿瘤性小脑共济失调相关的抗体的文献,包括接头蛋白 3B2 (AP3B2);肌醇 1,4,5-三磷酸受体 1 型 (ITPR​​1); 含三联基序 (TRIM) 蛋白 9、67 和 46;神经软骨素; 神经元中间丝轻链(NIF);隔膜 5; 代谢型谷氨酸受体 2 (mGluR2); 癫痫相关的 6 同源物如 2 (SEZ6L2) 和 homer-3 抗体。我们将回顾他们的临床特征、影像学和脑脊液检查结果以及治疗反应。此外,我们将讨论两个自身免疫性小脑共济失调的临床案例。在这里,我们将回顾最近发现的与自身免疫性和副肿瘤性小脑共济失调相关的抗体的文献,包括接头蛋白 3B2 (AP3B2);肌醇 1,4,5-三磷酸受体 1 型 (ITPR​​1); 含三联基序 (TRIM) 蛋白 9、67 和 46;神经软骨素; 神经元中间丝轻链(NIF);隔膜 5; 代谢型谷氨酸受体 2 (mGluR2); 癫痫相关的 6 同源物如 2 (SEZ6L2) 和 homer-3 抗体。我们将回顾他们的临床特征、影像学和脑脊液检查结果以及治疗反应。此外,我们将讨论两个自身免疫性小脑共济失调的临床案例。在这里,我们将回顾最近发现的与自身免疫性和副肿瘤性小脑共济失调相关的抗体的文献,包括接头蛋白 3B2 (AP3B2);肌醇 1,4,5-三磷酸受体 1 型 (ITPR​​1); 含三联基序 (TRIM) 蛋白 9、67 和 46;神经软骨素; 神经元中间丝轻链(NIF);隔膜 5; 代谢型谷氨酸受体 2 (mGluR2); 癫痫相关的 6 同源物如 2 (SEZ6L2) 和 homer-3 抗体。我们将回顾他们的临床特征、影像学和脑脊液检查结果以及治疗反应。此外,我们将讨论两个自身免疫性小脑共济失调的临床案例。和 46;神经软骨素; 神经元中间丝轻链(NIF);隔膜 5; 代谢型谷氨酸受体 2 (mGluR2); 癫痫相关的 6 同源物如 2 (SEZ6L2) 和 homer-3 抗体。我们将回顾他们的临床特征、影像学和脑脊液检查结果以及治疗反应。此外,我们将讨论两个自身免疫性小脑共济失调的临床案例。和 46;神经软骨素; 神经元中间丝轻链(NIF);隔膜 5; 代谢型谷氨酸受体 2 (mGluR2); 癫痫相关的 6 同源物如 2 (SEZ6L2) 和 homer-3 抗体。我们将回顾他们的临床特征、影像学和脑脊液检查结果以及治疗反应。此外,我们将讨论两个自身免疫性小脑共济失调的临床案例。
更新日期:2021-08-18
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