Alex Iranzo PT -期刊文章盟盟——安吉拉Mammana盟基本上Munoz-Lopetegi玛雅盟盟-索非亚Dellavalle盟杰拉德-马塞洛罗西盟莫妮卡Serradell AU -西蒙Baiardi AU -极光Arqueros盟科琳Quadalti AU - Andres Perissinotti盟Edoardo最近AU -琼Santamaria卡诺盟Carles Gaig AU -皮耶罗Parchi TI -错误折叠α-Synuclein评估在皮肤和CSF RT-QuIC孤立- 10.1212 / WNL REM睡眠行为障碍的援助。0000000000207147 DP - 2023年3月17日TA -神经病半岛投注体育官网学PG - 10.1212 / WNL。0000000000207147 4099 - http://n.半岛投注体育官网neurology.org/content/early/2023/03/17/WNL.0000000000207147.short 4100 - //www.ebmtp.com/content/early/2023/03/17/WNL.0000000000207147.full AB -背景和目标。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.

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