@article {Iranzo10.1212 / WNL。0000000000207147,作者= {Alex Iranzo和安吉拉Mammana基本上μ{\ ~ n} oz-Lopetegi和索非亚Dellavalle和杰拉德可能{\ '},马塞洛罗西和莫妮卡Serradell Simone Baiardi和极光Arqueros柯琳Quadalti和安德烈斯Perissinotti Edoardo最近琼Santamaria卡诺和卡莱斯Gaig皮耶罗Parchi}, title ={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},elocation-id = {10.1212 / WNL。={2023}0000000000207147},年,doi = {10.1212 / WNL。出版商0000000000207147}= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={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。 In skin, sensitivity to detect misfolded α-synuclein was 76.9\% (95\%CI 66.9{\textendash}85.1), specificity 97.6\% (95\%CI 87.1{\textendash}99.9) positive predictive value 98.6\% (95\%CI 91.0-99.8), negative predictive value 65.6\% (95\%CI 56.6-73.6) and accuracy 83.3\% (95\%CI 75.9{\textendash}89.3). In CSF, sensitivity was 75.0\% (95\% CI 64.6{\textendash}83.6), specificity 97.5\% (95\%CI 86.8{\textendash}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{\textendash}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.}, issn = {0028-3878}, URL = {//www.ebmtp.com/content/early/2023/03/17/WNL.0000000000207147}, eprint = {//www.ebmtp.com/content/early/2023/03/17/WNL.0000000000207147.full.pdf}, journal = {Neurology} }