• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) Associated with GlyR Antibody in an APECED Patient.

作者信息

Ochoa Sebastian, Waters Patrick, Vieillard Eléonore, Soldatos Ariane, Leite M Isabel, Lionakis Michail S

机构信息

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, USA.

Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.

出版信息

J Clin Immunol. 2024 Sep 12;45(1):2. doi: 10.1007/s10875-024-01802-w.

DOI:10.1007/s10875-024-01802-w
PMID:39264456
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11393104/
Abstract
摘要

相似文献

1
Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) Associated with GlyR Antibody in an APECED Patient.一名自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良（APECED）患者中与甘氨酸受体抗体相关的进行性脑脊髓炎伴强直和肌阵挛（PERM）
J Clin Immunol. 2024 Sep 12;45(1):2. doi: 10.1007/s10875-024-01802-w.
2
[A case of progressive encephalomyelitis with rigidity and myoclonus associated with anti-GAD, anti-glycine receptor and anti-GM1 antibodies].[一例与抗谷氨酸脱羧酶抗体、抗甘氨酸受体抗体及抗GM1抗体相关的伴有强直和肌阵挛的进行性脑脊髓炎]
Rinsho Shinkeigaku. 2015;55(2):111-4. doi: 10.5692/clinicalneurol.55.111.
3
Glycine receptor antibodies are detected in progressive encephalomyelitis with rigidity and myoclonus (PERM) but not in saccadic oscillations.甘氨酸受体抗体在进行性肌阵挛性脑脊髓炎伴僵硬和肌阵挛（PERM）中被检测到，但不在扫视性眼球震颤中被检测到。
J Neurol. 2012 Aug;259(8):1566-73. doi: 10.1007/s00415-011-6377-2. Epub 2012 Jan 4.
4
Case report: orthostatic hypotension as the first presentation of progressive encephalomyelitis with rigidity and myoclonus (PERM) with multiple autoimmune antibodies.病例报告：以直立性低血压为首发表现的进行性脑脊髓炎伴僵硬和肌阵挛（PERM）伴多种自身免疫抗体。
BMC Neurol. 2024 Nov 9;24(1):435. doi: 10.1186/s12883-024-03909-4.
5
Histopathological Investigation of Progressive Encephalomyelitis with Rigidity and Myoclonus: An Autopsy Case Characterized by Oculomotor Dysfunction and Autonomic Failure.僵人综合征伴动眼神经功能障碍和自主神经功能衰竭的组织病理学研究：一例尸检病例报告
Intern Med. 2025 Feb 15;64(4):597-602. doi: 10.2169/internalmedicine.3741-24. Epub 2024 Jul 18.
6
Redefining progressive encephalomyelitis with rigidity and myoclonus after the discovery of antibodies to glycine receptors.在发现抗甘氨酸受体抗体后对伴有强直和肌阵挛的进行性脑脊髓炎的重新定义。
Curr Opin Neurol. 2017 Jun;30(3):310-316. doi: 10.1097/WCO.0000000000000450.
7
Clinical features in antiglycine receptor antibody-related disease: a case report and update literature review.抗甘氨酸受体抗体相关疾病的临床特征：病例报告及文献复习更新。
Front Immunol. 2024 Jun 17;15:1387591. doi: 10.3389/fimmu.2024.1387591. eCollection 2024.
8
Progressive Encephalomyelitis With Rigidity and Myoclonus Syndrome Presenting as Catatonia.以紧张症形式表现的进行性脑脊髓炎伴强直和肌阵挛综合征
Psychosomatics. 2019 Jan-Feb;60(1):83-87. doi: 10.1016/j.psym.2018.05.005. Epub 2018 May 17.
9
Progressive encephalomyelitis with rigidity: A Taiwanese case and review of literature.进行性脑脊髓炎伴发僵硬：台湾地区 1 例病例报告及文献复习
Clin Neurol Neurosurg. 2021 Sep;208:106807. doi: 10.1016/j.clineuro.2021.106807. Epub 2021 Jul 13.
10
Systemic delivery of human GlyR IgG antibody induces GlyR internalization into motor neurons of brainstem and spinal cord with motor dysfunction in mice.全身性给予人 GlyR IgG 抗体可导致 GlyR 内化进入脑干和脊髓运动神经元，并导致小鼠运动功能障碍。
Neuropathol Appl Neurobiol. 2021 Feb;47(2):316-327. doi: 10.1111/nan.12666. Epub 2020 Sep 28.

引用本文的文献

1
Pediatric stiff-person syndrome and related disorders: A systematic review.小儿僵人综合征及相关疾病：一项系统综述。
Neurol Sci. 2025 Aug 19. doi: 10.1007/s10072-025-08397-z.

本文引用的文献

1
Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.原发性免疫缺陷病相关自身免疫病：自身免疫调节因子病和自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良。
Immunol Rev. 2019 Jan;287(1):103-120. doi: 10.1111/imr.12714.
2
Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies.自身免疫和炎症表现常发生于原发性免疫缺陷病患者中。
J Allergy Clin Immunol. 2017 Nov;140(5):1388-1393.e8. doi: 10.1016/j.jaci.2016.12.978. Epub 2017 Feb 10.
3
Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良的重新定义的临床特征和诊断标准。
JCI Insight. 2016 Aug 18;1(13). doi: 10.1172/jci.insight.88782.
4
Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomes.PERM 及相关综合征中的甘氨酸受体抗体：特征、临床特征和结局。
Brain. 2014 Aug;137(Pt 8):2178-92. doi: 10.1093/brain/awu142. Epub 2014 Jun 20.
5
Childhood onset of stiff-man syndrome.儿童期发作的僵人综合征。
JAMA Neurol. 2013 Dec;70(12):1531-6. doi: 10.1001/jamaneurol.2013.4442.