Non-rapid-eye运动和动深眠状态与睡眠呼吸障碍,舞蹈病和痴呆相关抗体IgLON5:病例报告(P2.010)

文摘

目的:描述一个新的anti-IGLON5脑病,为了改善其临床识别。背景:IgLON5抗体与小说相关的临床和病理实体,以独特的非REM和REM深眠状态与睡眠呼吸障碍和病理因地制宜τ存款,有别于目前已知tauopathy。我们报告一例典型的睡眠障碍与痴呆和舞蹈病。设计/方法:病例报告结果:一位71岁的妇女与异常运动和行为在睡眠期间,日间极度嗜睡与打鼾和六年前。最初的诊断阻塞性睡眠呼吸暂停是polissonography后持续气道正压表示。一年内,她进化舞蹈病和进步的痴呆。在检查,细微精神状态检查她得到20分,并观察舞蹈病。最初的脑磁共振图像和脑电图没有显示出非凡的发现。脑脊液披露轻度脑脊液细胞增多和轻度升高蛋白质。抗体IgLON5被确定在血清和CSF, HLA基因分型结果导致HLA-DRB1 * 1001和HLA-DQB1 * 0501等位基因。 After IV immunoglobulin and rituximab, Her symptoms remain unchanged. Conclusions: IgLON5 antibodies are markers of a new sleep syndrome associated with tau deposits. This disorder provides an intriguing link between autoimmunity and neurodegeneration. Whether these antibodies are an epiphenomenon of neurodegenerative process or play a role in disease pathophysiology remains an unsolved question. Previously reported patients had IgG4 antibodies against IgLON5, and, as in our case, all patients that were HLA genotyped had the same alleles: HLA-DQB1*0501 and HLA-DRB*1001. Importantly, this is the first case to show inflammatory changes in CSF. Generally, clinical course is slowly progressive and can be accompanied by other symptoms: chorea, dementia, dysarthria, dysphagia, ataxia, dysautonomia and gaze palsy, usually seem in other forms of neurodegenerative diseases. Therefore, if sleep complains are overlooked these patients can be misdiagnosed.

披露:Simabukuro博士没有披露。安东尼博士已经收到个人补偿扬声器谢礼Teva和生原体Idec和作为副主编Arquivos de神经——Psiquiatria。卷曲博士没有披露。哈达德博士没有披露。格劳博士站接收付款相关专利申请使用IgLON5抗体诊断测试。