Department of Neurology, Gifu University Graduate School of Medicine, 1-1 Yanagido, Gifu, 501-1194, Japan.
Department of Neurology, Shiga University of Medical Science, Seta Tsukinowa, Otsu, Japan.
Cerebellum. 2023 Oct;22(5):915-924. doi: 10.1007/s12311-022-01468-3. Epub 2022 Sep 3.
Idiopathic sporadic ataxia (ISA) is the clinical term for nonfamilial ataxia with adult-onset and a slowly progressive course. However, immune-mediated cerebellar ataxia cannot be completely excluded from ISA. The current study investigated the neuropil antibodies against cell-surface antigens and clarified the clinical features and neuroimaging findings of patients with these antibodies. Using tissue-based immunofluorescence assays (TBAs), we examined antibodies against the cerebellum in serum samples from 67 patients who met the ISA diagnostic criteria, including 30 patients with multiple system atrophy with predominant cerebellar features (MSA-C) and 20 patients with hereditary ataxia (HA), and 18 healthy control subjects. According to the TBA results, we divided subjects into three groups: subjects positive for neuropil antibodies, subjects positive for intracellular antibodies only, and subjects negative for antibodies. We compared clinical features and neuroimaging findings in ISA patients among these three groups. The prevalence of neuropil antibodies in ISA (17.9%) was significantly higher than that in MSA-C (3.3%), HA (0%), or healthy subjects (0%). The neuropil antibody-positive ISA patients showed pure cerebellar ataxia more frequently than the other ISA patients. Two neuropil antibody-positive patients showed significant improvement of cerebellar ataxia after immunotherapy. We detected neuropil antibodies in 17.9% of ISA patients. Characteristic clinical features of neuropil antibody-positive ISA patients were pure cerebellar ataxia. Some cases of neuropil antibody-positive ISA responded to immunotherapy.
特发性散发性共济失调（ISA）是指非家族性共济失调，发病年龄在成年后，呈缓慢进展。然而，免疫介导的小脑性共济失调不能完全排除在 ISA 之外。本研究调查了针对细胞表面抗原的神经突抗体，并阐明了具有这些抗体的患者的临床特征和神经影像学发现。使用基于组织的免疫荧光测定法（TBAs），我们检查了符合 ISA 诊断标准的 67 例患者血清样本中针对小脑的抗体，包括 30 例多系统萎缩伴主要小脑特征（MSA-C）和 20 例遗传性共济失调（HA）患者，以及 18 名健康对照者。根据 TBA 结果，我们将受试者分为三组：神经突抗体阳性组、细胞内抗体阳性组和抗体阴性组。我们比较了三组 ISA 患者的临床特征和神经影像学表现。ISA 中神经突抗体的患病率（17.9%）明显高于 MSA-C（3.3%）、HA（0%）或健康受试者（0%）。神经突抗体阳性的 ISA 患者比其他 ISA 患者更常出现单纯小脑性共济失调。两名神经突抗体阳性患者在免疫治疗后小脑共济失调显著改善。我们在 17.9%的 ISA 患者中检测到神经突抗体。神经突抗体阳性的 ISA 患者的特征性临床特征是单纯小脑性共济失调。一些神经突抗体阳性的 ISA 病例对免疫治疗有反应。
