帕金森病患者胃十二指肠和皮肤活检组织中的α-突触核蛋白实时震颤诱导转化检测

Alpha-synuclein RT-QuIC assay in gastroduodenal and skin biopsies of Parkinson disease patients.

作者信息

Emmi Aron, Mammana Angela, Sandre Michele, Baiardi Simone, Weis Luca, Rossi Marcello, Magliocchetti Franco, Savarino Edoardo, Russo Francesco Paolo, Porzionato Andrea, Carecchio Miryam, Campagnolo Marta, Antonini Angelo, Parchi Piero

机构信息

Parkinson and Movement Disorders Unit, Department of Neuroscience, Centre for Rare Neurological Diseases (ERN-RND), University of Padova, Padova, Italy.

Center for Neurodegenerative Disease Research (CESNE), University of Padova, Padova, Italy.

出版信息

Ann Clin Transl Neurol. 2025 Mar;12(3):637-642. doi: 10.1002/acn3.52282. Epub 2024 Dec 21.

DOI:10.1002/acn3.52282

PMID:39708331

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11920727/

Abstract

In this study, we compared the value of pathological alpha-synuclein (αSyn) seed amplification assay (SAA) in gastric and duodenal biopsies with skin biopsies in Parkinson disease (PD) patients with different disease duration. The accuracy of αSyn SAA was 87.7% in skin, 67.4% in duodenum, and 80.0% in gastric biopsies, with significantly higher sensitivity in advanced PD (skin: 81.8%; gastric: 88.9%; duodenal 58.8%). Misfolded αSyn was detected with higher sensitivity in advanced PD across all matrices, likely reflecting the progression of αSyn pathology. The seeding activity was lower in the duodenal than in the gastric wall, indicating differences in αSyn burden.

摘要

在本研究中，我们比较了病理α-突触核蛋白（αSyn）种子扩增分析（SAA）在不同病程帕金森病（PD）患者的胃和十二指肠活检组织与皮肤活检组织中的价值。αSyn SAA的准确率在皮肤活检中为87.7%，十二指肠活检中为67.4%，胃活检中为80.0%，在疾病晚期的PD患者中敏感性显著更高（皮肤：81.8%；胃：88.9%；十二指肠：58.8%）。在所有基质中，错误折叠的αSyn在疾病晚期的PD患者中检测到的敏感性更高，这可能反映了αSyn病理学的进展。十二指肠中的种子活性低于胃壁，表明αSyn负荷存在差异。