克雅氏病的抗体：对患者特征、诊断和临床意义的系统回顾。

IF 2.5 4区医学 Q3 IMMUNOLOGY

Journal of neuroimmunology Pub Date : 2026-04-01 Epub Date: 2026-01-14 DOI:10.1016/j.jneuroim.2026.578865

Raluca Bilavu , Marius Benta , Amalia Cornea , Lucian Vasiluta , Elena Cecilia Rosca

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引用次数: 0

摘要

背景：克雅氏病（Creutzfeldt-Jakob disease， CJD）是一种罕见的、进展迅速的朊病毒性神经退行性疾病，可导致致死性痴呆。最近，有报道在确诊的克雅氏病患者中发现了各种自身抗体，对其意义提出了疑问。我们对已发表的CJD共发生抗体的病例进行了范围综述，包括抗神经元抗体（如NMDAR、LGI1、CASPR2、VGKC、GAD65、GlyR）、抗甲状腺过氧化物酶、抗核抗体和感染相关抗体，以表征患者人口统计学特征、临床和诊断特征以及结果，并探讨这种关联的病理生理意义。方法：我们检索PubMed和Scopus数据库，截至2024年6月，遵循已发表的协议。我们纳入了血清/脑脊液检测检测到自身抗体的确诊/疑似CJD病例。分析了人口统计信息、临床表现、诊断结果、治疗方法和结果。结果：我们确定了65例CJD患者同时存在抗体，并报告了另外一例58岁女性遗传性CJD患者同时存在抗tpo和弱阳性CASPR2抗体。中位年龄为61岁（28-82岁），NMDAR-Ab患者年龄较大，LGI1/CASPR2-Ab患者年龄较小。大多数诊断为散发性CJD(86%)，并通过CJD生物标志物（RT-QuIC 100%, 14-3-3 92.6%, Tau 91.7%）确诊。抗体主要存在于血清中（87.2% vs. CSF 29.8%）。快速进展性痴呆是普遍的，步态障碍（71.9%）和运动障碍（59.4%）是常见的。大多数病例显示免疫治疗没有改善，表明抗体可能是一种附带现象。然而，少数病例有短暂或部分改善，提示可能的调节作用或双重病理。结论：抗体作为神经退行性变的继发效应在克雅氏病中越来越受到关注。它们使诊断复杂化，很少提示疾病的可治疗方面。需要更多的研究来阐明它们的复杂作用。

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Antibodies in Creutzfeldt-Jakob disease: A systematic review of patient characteristics, diagnostics, and clinical implications

Background

Creutzfeldt–Jakob disease (CJD) is a rare, rapidly progressive prion neurodegenerative disorder causing fatal dementia. Recently, reports have identified various autoantibodies in confirmed CJD patients, raising questions about their significance. We performed a scoping review of published CJD cases with co-occurring antibodies, including antineuronal (e.g., NMDAR, LGI1, CASPR2, VGKC, GAD65, GlyR), anti-thyroid peroxidase, antinuclear, and infection-related antibodies, to characterize patient demographics, clinical and diagnostic features, and outcomes, and explore the pathophysiological implications of this association.

Methods

We searched PubMed and Scopus databases up to June 2024, following a published protocol. We included definite/probable CJD cases in which serum/CSF testing detected autoantibodies. Demographic information, clinical presentations, diagnostic findings, treatments, and outcomes were analyzed.

Results

We identified 65 CJD patients with co-occurring antibodies and reported an additional case of a 58-year-old woman with genetic CJD and co-existing anti-TPO and weakly positive CASPR2 antibodies. The median age was 61 years (range 28–82), with NMDAR-Ab patients older and LGI1/CASPR2-Ab cases younger. Most were diagnosed with sporadic CJD (86%) and confirmed by CJD biomarkers (RT-QuIC 100%, 14–3-3 92.6%, Tau 91.7%). Antibodies were mainly found in serum (87.2% vs. 29.8% in CSF). Rapidly progressive dementia was universal, with gait impairment (71.9%) and movement disorders (59.4%) being common. Most cases showed no improvement with immunotherapy, indicating that antibodies may be an epiphenomenon. However, a few cases had transient or partial improvement, suggesting a possible modulatory role or dual pathology.

Conclusion

Antibodies are increasingly noted in CJD as a secondary effect of neurodegeneration. They complicate diagnosis and rarely suggest treatable aspects of the disease. More research is needed to clarify their complex role.

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来源期刊

Journal of neuroimmunology 医学-免疫学

CiteScore

6.10

自引率

3.00%

发文量

154

审稿时长

37 days

期刊介绍： The Journal of Neuroimmunology affords a forum for the publication of works applying immunologic methodology to the furtherance of the neurological sciences. Studies on all branches of the neurosciences, particularly fundamental and applied neurobiology, neurology, neuropathology, neurochemistry, neurovirology, neuroendocrinology, neuromuscular research, neuropharmacology and psychology, which involve either immunologic methodology (e.g. immunocytochemistry) or fundamental immunology (e.g. antibody and lymphocyte assays), are considered for publication.