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自身免疫性小脑性共济失调:来自中国的病例系列的病因和临床特征。

Autoimmune Cerebellar Ataxia: Etiology and Clinical Characteristics of a Case Series from China.

机构信息

Department of Neurology, Peking Union Medical College Hospital, Beijing, China.

Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.

出版信息

Cerebellum. 2023 Jun;22(3):379-385. doi: 10.1007/s12311-022-01412-5. Epub 2022 May 26.

Abstract

Autoimmune cerebellar ataxia (ACA) is an important and potentially treatable cause of sporadic cerebellar syndrome, but studies with large sample size are limited. This study reported a large ACA series in China and described its etiology and clinical characteristics. We reviewed all ACA patients from our hospital (2013-2021) and analyzed their clinical and paraclinical features, treatment, and outcome. ACA subtypes investigated included paraneoplastic cerebellar degeneration (PCD), primary autoimmune cerebellar ataxia (PACA), anti-glutamate decarboxylase (GAD)-associated cerebellar ataxia, opsoclonus-myoclonus syndrome (OMS), Miller Fisher syndrome (MFS), and ACA-associated with autoimmune encephalitis. A total of 127 patients were identified and 40.9% were male. The median onset age was 47.0 years. Gait ataxia was the most prevalent feature followed by limb ataxia, dizziness, and dysarthria/dysphagia. Extracerebellar manifestations included pyramidal signs (28.3%) and peripheral neuropathy/radiculopathy (15.0%). ACA subtypes were PCD (30.7%), PACA (37.8%), ACA associated with autoimmune encephalitis (12.6%), anti-GAD-associated ACA (8.7%), MFS (7.1%), and OMS (3.1%). Neuronal antibodies were positive in 67.7% of patients. Brain magnetic resonance imaging was unremarkable (55.7%) or showed atrophy (18.3%) or abnormal signal intensity (26.1%, most of which was extracerebellar). Although most patients received immunotherapy, the modified Rankin scale at last follow-up was ≤ 2 in only 47.3% patients. Thirteen patients died and 24 relapsed. Compared with PACA, PCD patients were older and had poorer outcome. This study illustrates the heterogeneity in the clinical features of ACA and suggests the importance of neuronal antibody testing in ACA diagnosis. PCD and PACA are the dominant ACA subtypes, and the former has a less favorable prognosis.

摘要

自身免疫性小脑性共济失调(ACA)是散发小脑综合征的一个重要且潜在可治疗的病因,但研究样本量较大的研究有限。本研究报道了中国的一项大型 ACA 系列研究,并描述了其病因和临床特征。我们回顾了我院(2013-2021 年)所有 ACA 患者,并分析了他们的临床和辅助检查特征、治疗和预后。研究的 ACA 亚型包括副肿瘤性小脑变性(PCD)、原发性自身免疫性小脑性共济失调(PACA)、抗谷氨酸脱羧酶(GAD)相关小脑性共济失调、眼阵挛-肌阵挛综合征(OMS)、Miller Fisher 综合征(MFS)和自身免疫性脑炎相关的 ACA。共确定了 127 名患者,其中 40.9%为男性。中位发病年龄为 47.0 岁。步态共济失调是最常见的特征,其次是肢体共济失调、头晕和构音障碍/吞咽困难。脑外表现包括锥体束征(28.3%)和周围神经病/神经根病(15.0%)。ACA 亚型包括 PCD(30.7%)、PACA(37.8%)、自身免疫性脑炎相关的 ACA(12.6%)、抗 GAD 相关的 ACA(8.7%)、MFS(7.1%)和 OMS(3.1%)。神经元抗体阳性率为 67.7%。脑磁共振成像无明显异常(55.7%)或显示萎缩(18.3%)或异常信号强度(26.1%,其中大部分为脑外)。尽管大多数患者接受了免疫治疗,但末次随访时改良 Rankin 量表评分仍 ≤ 2 的仅占 47.3%。13 名患者死亡,24 名患者复发。与 PACA 相比,PCD 患者年龄较大,预后较差。本研究说明了 ACA 临床特征的异质性,并提示神经元抗体检测在 ACA 诊断中的重要性。PCD 和 PACA 是主要的 ACA 亚型,前者预后较差。

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