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应对僵人综合征的复杂性:一例病例报告及文献综述

Navigating the Complexity of Stiff Person Syndrome: A Case Report and Literature Review.

作者信息

Mullins Jordyn, Sheppard Cody, Beyer Brian R, Blacksten Cheri

机构信息

Family Medicine, Burrell College of Osteopathic Medicine, Las Cruces, USA.

出版信息

Cureus. 2024 Nov 7;16(11):e73219. doi: 10.7759/cureus.73219. eCollection 2024 Nov.

DOI:10.7759/cureus.73219
PMID:39651016
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11624894/
Abstract

Stiff person spectrum disorder is a disease that involves a host of conditions that are associated with glutamic acid decarboxylase 65-kilodalton isoform autoantibodies. These conditions may include diabetes mellitus type 1, pernicious anemia, autoimmune leukoencephalopathy, cerebellar ataxia, and stiff-person syndrome. Clinical recognition and diagnosis of stiff person spectrum disorder are important early, as immunologic treatment options showing reliable efficacy in slowing disease progression are available. This case presents a wide constellation of symptoms in which we describe the pathophysiology, clinical diagnosis, and current as well as future treatment options that may be available. .

摘要

僵人谱系障碍是一种涉及一系列与谷氨酸脱羧酶65千道尔顿同工型自身抗体相关病症的疾病。这些病症可能包括1型糖尿病、恶性贫血、自身免疫性白质脑病、小脑共济失调和僵人综合征。早期对僵人谱系障碍进行临床识别和诊断很重要,因为有显示出在减缓疾病进展方面具有可靠疗效的免疫治疗选择。本病例呈现出一系列广泛的症状,我们将描述其病理生理学、临床诊断以及当前和未来可能可用的治疗选择。

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Navigating the Complexity of Stiff Person Syndrome: A Case Report and Literature Review.应对僵人综合征的复杂性:一例病例报告及文献综述
Cureus. 2024 Nov 7;16(11):e73219. doi: 10.7759/cureus.73219. eCollection 2024 Nov.
2
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Stiff-person syndrome associated with cerebellar ataxia and high glutamic acid decarboxylase antibody titer.僵人综合征伴小脑共济失调及高谷氨酸脱羧酶抗体滴度
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本文引用的文献

1
Late-onset stiff-person syndrome: challenges in diagnosis and management.迟发性僵人综合征:诊断与管理中的挑战
Ther Adv Neurol Disord. 2023 Dec 25;16:17562864231214315. doi: 10.1177/17562864231214315. eCollection 2023.
2
Stiff Person Spectrum Disorders-An Update and Outlook on Clinical, Pathophysiological and Treatment Perspectives.僵人谱系障碍——临床、病理生理及治疗前景的最新进展与展望
Biomedicines. 2023 Sep 10;11(9):2500. doi: 10.3390/biomedicines11092500.
3
Long-term Effectiveness of IVIg Maintenance Therapy in 36 Patients With GAD Antibody-Positive Stiff-Person Syndrome.36 例抗 GAD 抗体阳性僵人综合征患者静脉注射免疫球蛋白维持治疗的长期疗效。
Neurol Neuroimmunol Neuroinflamm. 2022 Jul 7;9(5). doi: 10.1212/NXI.0000000000200011. Print 2022 Sep.
4
Stiff person syndrome spectrum disorders; more than meets the eye.僵人综合征谱障碍;比想象的更复杂。
J Neuroimmunol. 2022 Aug 15;369:577915. doi: 10.1016/j.jneuroim.2022.577915. Epub 2022 Jun 12.
5
Similarities between bacterial GAD and human GAD65: Implications in gut mediated autoimmune type 1 diabetes.细菌 GAD 与人类 GAD65 之间的相似性:在肠道介导的自身免疫性 1 型糖尿病中的意义。
PLoS One. 2022 Feb 23;17(2):e0261103. doi: 10.1371/journal.pone.0261103. eCollection 2022.
6
Unusual presentation of stiff-person syndrome in a patient with type 1 diabetes mellitus.1 型糖尿病患者僵硬人综合征的不典型表现。
BMJ Case Rep. 2022 Feb 7;15(2):e247482. doi: 10.1136/bcr-2021-247482.
7
Stiff-person Syndrome and GAD Antibody-spectrum Disorders: GABAergic Neuronal Excitability, Immunopathogenesis and Update on Antibody Therapies.僵人综合征和 GABA 能神经元兴奋性、免疫发病机制及抗体治疗更新:广泛性焦虑症抗体谱障碍。
Neurotherapeutics. 2022 Apr;19(3):832-847. doi: 10.1007/s13311-022-01188-w. Epub 2022 Jan 27.
8
One in a Million: A Case Report of Stiff Person Syndrome.百万分之一:僵人综合征病例报告
Case Rep Rheumatol. 2022 Jan 13;2022:7741545. doi: 10.1155/2022/7741545. eCollection 2022.
9
Quantitative Assessment of Response to Long-Term Treatment with Intravenous Immunoglobulin in Patients with Stiff Person Syndrome.僵人综合征患者静脉注射免疫球蛋白长期治疗反应的定量评估
Mov Disord Clin Pract. 2021 Jun 18;8(6):868-874. doi: 10.1002/mdc3.13261. eCollection 2021 Aug.
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GAD antibody-spectrum disorders: progress in clinical phenotypes, immunopathogenesis and therapeutic interventions.广泛性焦虑症抗体谱障碍:临床表型、免疫发病机制及治疗干预的进展
Ther Adv Neurol Disord. 2021 Mar 30;14:17562864211003486. doi: 10.1177/17562864211003486. eCollection 2021.