RT期刊文章SR电子T1错误折叠α-Synuclein评估在皮肤和CSF RT-QuIC孤立的REM睡眠行为障碍摩根富林明神经学神经学乔FD Lippincott Williams &威尔金斯10.1212 SP / WNL。半岛投注体育官网0000000000207147 10.1212 / WNL。0000000000207147 A1亚历克斯Iranzo A1安吉拉Mammana A1基本上Munoz-Lopetegi A1索非亚Dellavalle A1杰拉德玛雅A1马塞洛罗西A1莫妮卡Serradell A1西蒙Baiardi A1极光Arqueros A1柯琳Quadalti A1 Andres Perissinotti A1 Edoardo最近A1琼Santamaria卡诺A1 Carles Gaig A1皮耶罗Parchi年2023 UL //www.ebmtp.com/content/early/2023/03/17/WNL.0000000000207147.abstract AB背景和目标。半岛投注体育官网实时quaking-induced转换(RT-QuIC)试验检测错误折叠α-synuclein在患者的皮肤和CSF synucleinopathies帕金森病和路易体痴呆。孤立的REM睡眠行为障碍(IRBD)构成这些synucleinopathies的前驱期。我们旨在比较的能力RT-QuIC识别错误折叠的皮肤和CSFα-synuclein IRBD patients.Methods。连续横断面研究患者polysomnographic-confirmed IRBD和年龄组没有RBD接受皮肤活检和腰椎穿刺。3毫米的皮肤穿孔活检获得双边颈地区从背侧C7、C8皮节,而在远端腿。RT-QuIC评估错误折叠α-synuclein这六个皮肤网站和CSF.Results。我们招募了91名IRBD患者和41控制。在皮肤,敏感性检测错误折叠α-synuclein为76.9% (95% ci 66.9 - -85.1),特异性97.6% (95% ci 87.1 - -99.9)阳性预测值98.6% (95% ci 91.0 - -99.8),阴性预测值65.6% (95% ci 56.6 - -73.6)和准确性83.3% (95% ci 75.9 - -89.3)。 In CSF, sensitivity was 75.0% (95% CI 64.6–83.6), specificity 97.5% (95%CI 86.8–99.9) positive predictive value 98.5% (95%CI 90.5-99.8), negative predictive value 63.9% (95%CI 55.2-71.9) and accuracy 82.0% (95%CI 74.3–88.3). Results in skin and CSF samples showed 99.2% agreement. Compared with negative patients, RT-QuIC α-synuclein positive patients had higher likelihood ratio of prodromal Parkinson disease (p<0.001) and showed more frequently hyposmia (p<0.001), DAT-SPECT deficit (p=0.002) and orthostatic hypotension (p=0.014). No severe or moderate adverse effects were reported. There was no difference between percentage of participants reporting mild adverse events secondary to skin biopsy or lumbar puncture (9.1% versus 17.2%; p=0.053).83% participants stated they would accept to undergo again skin biopsy and 80% lumbar puncture, for research purposes.Discussion. Our study in IRBD shows that 1) RT-QuIC detects misfolded α-synuclein in skin and CSF with similar high sensitivity, specificity, and agreement, 2) α-synuclein RT-QuIC positivity is associated with supportive features and biomarkers of synucleinopathy, and 3) skin punch biopsy and lumbar puncture have comparable mild adverse effects, tolerance, and acceptance. α-synuclein RT-QuIC in skin or CSF might represent a patient selection strategy for future neuroprotective trials targeting α-synuclein in IRBD.Classification of Evidence: This study provides Class III evidence that RT-QuIC detected misfolded α-synuclein in the skin and CSF distinguishes patients with IRBD from controls.