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自身免疫性运动障碍

Autoimmune movement disorders.

作者信息

Mckeon Andrew, Vincent Angela

机构信息

Departments of Neurology and Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK.

出版信息

Handb Clin Neurol. 2016;133:301-15. doi: 10.1016/B978-0-444-63432-0.00017-7.

Abstract

Autoimmune movement disorders encapsulate a large and diverse group of neurologic disorders occurring either in isolation or accompanying more diffuse autoimmune encephalitic illnesses. The full range of movement phenomena has been described and, as they often occur in adults, many of the presentations can mimic neurodegenerative disorders, such as Huntington disease. Disorders may be ataxic, hypokinetic (parkinsonism), or hyperkinetic (myoclonus, chorea, tics, and other dyskinetic disorders). The autoantibody targets are diverse and include neuronal surface proteins such as leucine-rich, glioma-inactivated 1 (LGI1) and glycine receptors, as well as antibodies (such as intracellular antigens) that are markers of a central nervous system process mediated by CD8+ cytotoxic T cells. However, there are two conditions, stiff-person syndrome (also known as stiff-man syndrome) and progressive encephalomyelitis with rigidity and myoclonus (PERM), that are always autoimmune movement disorders. In some instances (such as Purkinje cell cytoplasmic antibody-1 (PCA-1) autoimmunity), antibodies detected in serum and cerebrospinal fluid can be indicative of a paraneoplastic cause, and may direct the cancer search. In other instances (such as 65kDa isoform of glutamic acid decarboxylase (GAD65) autoimmunity), a paraneoplastic cause is very unlikely, and early treatment with immunotherapy may promote improvement or recovery. Here we describe the different types of movement disorder and the clinical features and antibodies associated with them, and discuss treatment.

摘要

自身免疫性运动障碍涵盖了一大类多样的神经系统疾病,这些疾病可单独出现,也可伴随更弥漫性的自身免疫性脑炎疾病。已对各种运动现象进行了描述,由于它们常发生于成人,许多表现可模仿神经退行性疾病,如亨廷顿病。这些疾病可能是共济失调性、运动减少性(帕金森综合征)或运动增多性(肌阵挛、舞蹈症、抽动及其他运动障碍)。自身抗体的靶点多种多样,包括富含亮氨酸的胶质瘤失活1(LGI1)和甘氨酸受体等神经元表面蛋白,以及作为由CD8 + 细胞毒性T细胞介导的中枢神经系统过程标志物的抗体(如细胞内抗原)。然而,有两种疾病,即僵人综合征(也称为僵人症)和伴有强直和肌阵挛的进行性脑脊髓炎(PERM),始终属于自身免疫性运动障碍。在某些情况下(如浦肯野细胞胞质抗体1(PCA - 1)自身免疫),血清和脑脊液中检测到的抗体可能提示副肿瘤性病因,并可指导癌症筛查。在其他情况下(如谷氨酸脱羧酶65kDa亚型(GAD65)自身免疫),副肿瘤性病因的可能性很小,免疫疗法早期治疗可能促进改善或恢复。在此,我们描述不同类型的运动障碍及其相关的临床特征和抗体,并讨论治疗方法。

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