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Abstract：
Only 15 patients of autoimmune encephalitis with metabotropic glutamate receptor 5 (mGluR5) antibodies have been reported worldwide since 2011, mostly from western countries. Patients with different genetic backgrounds are necessary to further clarify the clinical phenotype and prognosis of this rare disease.
We initially describe a case series from China to confirm the previous findings, expand the clinical phenotype, and identify the prognostic factors of autoimmune encephalitis with mGluR5 antibodies.
Observational data with follow-up were prospectively collected from autoimmune encephalitis patients with mGluR5 antibodies. Clinical information and outcomes on current and previously reported cases were combined and analyzed.
We identified five patients (median age 35 years); two were female. The main clinical manifestations were behavioral/personality changes (five of five, 100%) and cognitive disorders (four of five, 80%), accompanied with other neurologic symptoms. Hypoventilation occurred in two (40%) patients, which was life-threatening. One patient had meningoencephalitis, suggesting a new phenotype in anti-mGluR5 encephalitis. All patients received immunotherapy. At the last follow-up (median 18 months), two (40%) patients showed complete recovery, two (40%) patients showed partial recovery, and one (20%) patient died. One (20%) patient had multiple relapses. Together with the 15 previously reported cases, associated tumors occurred in seven of 12 (58%) Western patients vs. one of eight (13%) Chinese patients. Modified Rankin Scale (mRS) scores at the last follow-up (median 31 months) were available in 16 patients. Patients with bad outcomes (mRS > 2, n = 4) were more likely to have hypoventilation at onset and higher mRS scores at peak of the disease.
In patients with different genetic background, as Chinese, the clinical phenotype of anti-mGluR5 encephalitis is similar. Fewer paraneoplastic cases were observed in Chinese patients. Most patients showed good responses to immunotherapy and cancer treatment. The clinical outcomes were favorable in most patients.
We initially describe a case series from China to confirm the previous findings, expand the clinical phenotype, and identify the prognostic factors of autoimmune encephalitis with mGluR5 antibodies.
Observational data with follow-up were prospectively collected from autoimmune encephalitis patients with mGluR5 antibodies. Clinical information and outcomes on current and previously reported cases were combined and analyzed.
We identified five patients (median age 35 years); two were female. The main clinical manifestations were behavioral/personality changes (five of five, 100%) and cognitive disorders (four of five, 80%), accompanied with other neurologic symptoms. Hypoventilation occurred in two (40%) patients, which was life-threatening. One patient had meningoencephalitis, suggesting a new phenotype in anti-mGluR5 encephalitis. All patients received immunotherapy. At the last follow-up (median 18 months), two (40%) patients showed complete recovery, two (40%) patients showed partial recovery, and one (20%) patient died. One (20%) patient had multiple relapses. Together with the 15 previously reported cases, associated tumors occurred in seven of 12 (58%) Western patients vs. one of eight (13%) Chinese patients. Modified Rankin Scale (mRS) scores at the last follow-up (median 31 months) were available in 16 patients. Patients with bad outcomes (mRS > 2, n = 4) were more likely to have hypoventilation at onset and higher mRS scores at peak of the disease.
In patients with different genetic background, as Chinese, the clinical phenotype of anti-mGluR5 encephalitis is similar. Fewer paraneoplastic cases were observed in Chinese patients. Most patients showed good responses to immunotherapy and cancer treatment. The clinical outcomes were favorable in most patients.
摘要：
■自2011年以来，全球仅报道了15例具有代谢型谷氨酸受体5（mGluR5）抗体的自身免疫性脑炎患者，大部分来自西方国家。不同遗传背景的患者需要进一步明确这种罕见病的临床表型和预后。
■我们最初描述了一个来自中国的案例系列，以证实先前的发现，扩大临床表型，并确定mGluR5抗体对自身免疫性脑炎的预后因素。
■前瞻性收集具有mGluR5抗体的自身免疫性脑炎患者的随访观察数据。合并并分析当前和先前报告病例的临床信息和结果。
■我们确定了5例患者（中位年龄35岁）；其中2例为女性。主要临床表现为行为/人格改变(五分之五，100%)和认知障碍(五个中的四个，80%),伴有其他神经系统症状。2例（40%）患者发生通气不足，这会危及生命.一个病人患有脑膜脑炎,提示抗mGluR5脑炎的新表型。所有患者均接受免疫治疗。在最后一次随访（中位数18个月），两名（40％）患者显示完全康复，两名（40％）患者显示部分康复，1名（20%）患者死亡。1例（20%）患者多次复发。加上先前报告的15例病例，相关肿瘤发生在12例（58%）西方患者中的7例与八位中国患者中的一位（13%）。16例患者在末次随访（中位数31个月）时获得了改良的Rankin量表（mRS）评分。预后不良（mRS>2，n=4）的患者在发病时更有可能出现通气不足，在疾病高峰时mRS评分更高。
■在具有不同遗传背景的患者中，作为中国人,抗mGluR5脑炎的临床表型相似.中国患者的副肿瘤病例较少。大多数患者对免疫疗法和癌症治疗表现出良好的反应。大多数患者的临床预后良好。
■我们最初描述了一个来自中国的案例系列，以证实先前的发现，扩大临床表型，并确定mGluR5抗体对自身免疫性脑炎的预后因素。
■前瞻性收集具有mGluR5抗体的自身免疫性脑炎患者的随访观察数据。合并并分析当前和先前报告病例的临床信息和结果。
■我们确定了5例患者（中位年龄35岁）；其中2例为女性。主要临床表现为行为/人格改变(五分之五，100%)和认知障碍(五个中的四个，80%),伴有其他神经系统症状。2例（40%）患者发生通气不足，这会危及生命.一个病人患有脑膜脑炎,提示抗mGluR5脑炎的新表型。所有患者均接受免疫治疗。在最后一次随访（中位数18个月），两名（40％）患者显示完全康复，两名（40％）患者显示部分康复，1名（20%）患者死亡。1例（20%）患者多次复发。加上先前报告的15例病例，相关肿瘤发生在12例（58%）西方患者中的7例与八位中国患者中的一位（13%）。16例患者在末次随访（中位数31个月）时获得了改良的Rankin量表（mRS）评分。预后不良（mRS>2，n=4）的患者在发病时更有可能出现通气不足，在疾病高峰时mRS评分更高。
■在具有不同遗传背景的患者中，作为中国人,抗mGluR5脑炎的临床表型相似.中国患者的副肿瘤病例较少。大多数患者对免疫疗法和癌症治疗表现出良好的反应。大多数患者的临床预后良好。
