Mesh : Humans Movement Disorders / diagnosis immunology Autoimmune Diseases / diagnosis immunology Female Male Cerebellar Ataxia / diagnosis immunology Middle Aged Adult Autoantibodies / blood cerebrospinal fluid COVID-19 / immunology diagnosis complications Diagnosis, Differential Autoimmune Diseases of the Nervous System / diagnosis immunology

来  源:   DOI:10.1212/CON.0000000000001455

Abstract:
OBJECTIVE: This article reviews the clinical and antibody spectrum of autoimmune cerebellar ataxia and other autoimmune movement disorders. It highlights characteristic phenotypes and red flags to the diagnosis and how these rare, but treatable, disorders are integrated into a differential diagnosis.
UNASSIGNED: An increasing number of neuronal antibodies have been identified in patients with cerebellar ataxia, for example, against Kelch-like protein 11 (KLHL11), seizure-related 6 homolog-like 2, septin-3 and septin-5, or tripartite motif containing protein 9 (TRIM9), TRIM46, and TRIM67. Ig-like cell adhesion molecule 5 (IgLON5) antibody-associated syndromes have emerged as an important alternative diagnostic consideration to various neurodegenerative diseases such as Huntington disease or atypical parkinsonism. Opsoclonus-myoclonus syndrome emerged as the most relevant parainfectious movement disorder related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).
UNASSIGNED: Autoimmune cerebellar ataxia and other autoimmune movement disorders encompass a broad spectrum of different clinical syndromes, antibodies, and immunopathophysiologic mechanisms. Clinical acumen is key to identifying the cases that should undergo testing for neuronal antibodies. Given the overlap between phenotypes and antibodies, panel testing in serum and CSF is recommended.
摘要:
目的:本文对自身免疫性小脑共济失调和其他自身免疫性运动障碍的临床和抗体谱进行综述。它突出了特征性的表型和危险信号的诊断,以及这些罕见的,但可以治疗,疾病被整合到鉴别诊断中。
在小脑共济失调患者中发现越来越多的神经元抗体,例如,针对Kelch样蛋白11(KLHL11),癫痫发作相关的6同系物样2,septin-3和septin-5,或含有蛋白9(TRIM9)的三方基序,TRIM46和TRIM67。Ig样细胞粘附分子5(IgLON5)抗体相关综合征已成为各种神经退行性疾病如亨廷顿病或非典型帕金森病的重要替代诊断考虑因素。视阵风-肌阵风综合征是与严重急性呼吸道综合征冠状病毒2(SARS-CoV-2)相关的最相关的副传染性运动障碍。
自身免疫性小脑共济失调和其他自身免疫性运动障碍涵盖了广泛的不同临床综合征,抗体,和免疫病理生理机制。临床敏锐度是确定应接受神经元抗体测试的病例的关键。鉴于表型和抗体之间的重叠,建议在血清和CSF中进行面板测试。
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