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期刊来源：JAMA

原文链接：https://doi.org/10.1001/jama.2024.0792

摘要内容如下：

重要性

为统称为突触核蛋白病的疾病（帕金森病[PD]、路易体痴呆[DLB]、多系统萎缩[MSA]和单纯自主神经衰竭[PAF]）寻找可靠的诊断生物标志物是一项尚未满足的迫切需求。皮肤磷酸化α-突触核蛋白的免疫组织化学检测可能是诊断突触核蛋白病的一种敏感而特异的临床检测方法。

目的

评估PD、DLB、MSA和PAF患者皮肤α-突触核蛋白沉积的阳性率。

设计、设置和参与者

从2021年2月到2023年3月，对学术和社区神经病学实践进行了一项盲法、30个地点、横断面研究，纳入了40至99岁的患者，根据临床共识标准，临床诊断为PD、DLB、MSA或PAF，并由专家审查小组确认，以及40至99岁的对照参与者，没有检查结果或症状提示突触核蛋白病或神经退行性疾病的病史。所有参与者都完成了详细的神经系统检查和疾病特异性问卷调查，并进行了皮肤活检以检测磷酸化α-突触核蛋白。对病理数据不知情的专家评审小组确定了参与者的最终诊断。

曝光

皮肤活检检测磷酸化α-突触核蛋白。

主要成果

PD、MSA、DLB和PAF患者以及无突触核蛋白病的对照组中皮肤α-突触核蛋白的检出率

结果

在登记的428名参与者中，343名被纳入主要分析（平均[SD]年龄，69.5[9.1]岁；175人[51.0%]为男性；223例符合突触核蛋白病的共识标准，120例符合专家组审查后的对照标准。通过皮肤活检检测到皮肤磷酸化α-突触核蛋白的个体比例为：PD 92.7%（89/96），MSA 98.2%（54/55），DLB 96.0%（48/50），PAF 100%（22/22）；3.3%（4/120）的对照组检测到皮肤磷酸化α-突触核蛋白。

结论和相关性

在这项横断面研究中，符合PD、DLB、MSA和PAF临床共识标准的高比例个体通过皮肤活检检测到磷酸化α-突触核蛋白。需要在未经选择的临床人群中进行进一步的研究，以从外部验证研究结果，并充分描述皮肤活检检测磷酸化α-突触核蛋白在临床护理中的潜在作用。

英文原文如下：

Abstracts

Importance  Finding a reliable diagnostic biomarker for the disorders collectively known as synucleinopathies (Parkinson disease [PD], dementia with Lewy bodies [DLB], multiple system atrophy [MSA], and pure autonomic failure [PAF]) is an urgent unmet need. Immunohistochemical detection of cutaneous phosphorylated α-synuclein may be a sensitive and specific clinical test for the diagnosis of synucleinopathies.

Objective  To evaluate the positivity rate of cutaneous α-synuclein deposition in patients with PD, DLB, MSA, and PAF.

Design, Setting, and Participants  This blinded, 30-site, cross-sectional study of academic and community-based neurology practices conducted from February 2021 through March 2023 included patients aged 40 to 99 years with a clinical diagnosis of PD, DLB, MSA, or PAF based on clinical consensus criteria and confirmed by an expert review panel and control participants aged 40 to 99 years with no history of examination findings or symptoms suggestive of a synucleinopathy or neurodegenerative disease. All participants completed detailed neurologic examinations and disease-specific questionnaires and underwent skin biopsy for detection of phosphorylated α-synuclein. An expert review panel blinded to pathologic data determined the final participant diagnosis.

Exposure  Skin biopsy for detection of phosphorylated α-synuclein.

Main Outcomes  Rates of detection of cutaneous α-synuclein in patients with PD, MSA, DLB, and PAF and controls without synucleinopathy.

Results  Of 428 enrolled participants, 343 were included in the primary analysis (mean [SD] age, 69.5 [9.1] years; 175 [51.0%] male); 223 met the consensus criteria for a synucleinopathy and 120 met criteria as controls after expert panel review. The proportions of individuals with cutaneous phosphorylated α-synuclein detected by skin biopsy were 92.7% (89 of 96) with PD, 98.2% (54 of 55) with MSA, 96.0% (48 of 50) with DLB, and 100% (22 of 22) with PAF; 3.3% (4 of 120) of controls had cutaneous phosphorylated α-synuclein detected.

Conclusions and Relevance  In this cross-sectional study, a high proportion of individuals meeting clinical consensus criteria for PD, DLB, MSA, and PAF had phosphorylated α-synuclein detected by skin biopsy. Further research is needed in unselected clinical populations to externally validate the findings and fully characterize the potential role of skin biopsy detection of phosphorylated α-synuclein in clinical care.

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