Cell-surface central nervous system autoantibodies: clinical relevance and emerging paradigms.
Cell-surface central nervous system autoantibodies: clinical relevance and emerging paradigms.
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DOI：
10.1002/ana.24200
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发表时间：
2014-08
影响因子：
11.2
通讯作者：
Vincent, Angela
中科院分区：
文献类型：
--
作者：
Irani, Sarosh R.;Gelfand, Jeffrey M.;Al-Diwani, Adam;Vincent, Angela
最近发现的几种潜在致病自身抗体有助于确定患有临床上独特的中枢神经系统疾病的患者，这些疾病似乎受益于免疫治疗。相关的自身抗体针对细胞表面表达的神经元或神经胶质蛋白的胞外域，如LGI1、N-甲基-D-天冬氨酸受体和水通道蛋白-4。最初对相关临床症状的描述有很好的表型界定。然而，随着抗体检测的可用性增加，相关患者表型和人口统计学的范围也扩大了。这反过来又导致在出现认知和行为问题、癫痫、运动障碍、精神特征和脱髓鞘疾病的患者中认识到更多的免疫治疗反应综合征。虽然抗体检测在诊断上仍然很重要，但临床上对这些独特症状的认识应该确保早期和适当的免疫治疗。我们回顾了新出现的细胞表面导向抗体介导的神经系统疾病的范例，描述了自最初的描述以来相关疾病谱是如何扩大的，讨论了一些关于抗体检测技术的方法学问题，并强调了围绕免疫治疗管理的考虑。随着这些疾病继续进入主流神经学甚至精神病学，更多的细胞表面导向抗体将被发现，它们可能与其他更常见的疾病表现的相关性应该变得更加明确。
The recent discovery of several potentially pathogenic autoantibodies has helped identify patients with clinically distinctive central nervous system diseases that appear to benefit from immunotherapy. The associated autoantibodies are directed against the extracellular domains of cell-surface–expressed neuronal or glial proteins such as LGI1, N-methyl-D-aspartate receptor, and aquaporin-4. The original descriptions of the associated clinical syndromes were phenotypically well circumscribed. However, as availability of antibody testing has increased, the range of associated patient phenotypes and demographics has expanded. This in turn has led to the recognition of more immunotherapy-responsive syndromes in patients presenting with cognitive and behavioral problems, seizures, movement disorders, psychiatric features, and demyelinating disease. Although antibody detection remains diagnostically important, clinical recognition of these distinctive syndromes should ensure early and appropriate immunotherapy administration. We review the emerging paradigm of cell-surface–directed antibody–mediated neurological diseases, describe how the associated disease spectrums have broadened since the original descriptions, discuss some of the methodological issues regarding techniques for antibody detection and emphasize considerations surrounding immunotherapy administration. As these disorders continue to reach mainstream neurology and even psychiatry, more cell-surface–directed antibodies will be discovered, and their possible relevance to other more common disease presentations should become more clearly defined.
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