% 0期刊文章% Ningshan王克里斯托弗•吉本斯% %一个Sharika Rajan %画Kern % Jose-Alberto帕尔马%一罗伊·弗里曼霍雷肖Kaufmann % % T多系统萎缩患者皮肤α-Synuclein签名和帕金森病% D R 10.1212 / WNL 2023%。0000000000206772 % J半岛投注体育官网神经病学% P e1529-e1539 % V 100% N 15% X背景和目标多系统萎缩(MSA)是一种进行性神经退行性疾病引起的神经系统异常α-synuclein积累。临床特征包括自主和运动功能障碍,重叠与帕金森病(PD),特别是在疾病的早期阶段。有一个未满足的需要准确的诊断和预后的生物标志物MSA,具体地说,一个关键需要区分从其他synucleinopathies MSA,尤其是PD。这项研究的目的是开发一个独特的皮肤病理特征可以区分的磷酸化α-synuclein MSA患者PD患者和健康对照组。方法研究31 MSA患者和54 PD患者根据当前临床诊断标准达成共识。我们还包括24匹配控制。所有参与者接受神经系统检查,自主测试,和皮肤活检3位置。表皮内的密度,催汗的,竖毛神经纤维测量。磷酸化α-synuclein的沉积是量化。结果与临床评估分级和自主功能测试结果。结果PD患者降低了神经纤维密度与MSA患者(p < 0.05,所有纤维类型)。 All patients with MSA and 51/54 with PD had evidence of phosphorylated α-synuclein in at least one skin biopsy. No phosphorylated α-synuclein was detected in controls. Patients with MSA had greater phosphorylated α-synuclein deposition (p < 0.0001) and more widespread peripheral distribution (p < 0.0001) than patients with PD. These results provided >90% sensitivity and specificity in distinguishing between the 2 disorders.Discussion α-synuclein is present in the peripheral autonomic nerves of patients with MSA and when combined with synuclein distribution accurately distinguishes MSA from PD.Classification of Evidence This study provides Class II evidence that measurement of phosphorylated α-synuclein in skin biopsies can differentiate patients with MSA from those with PD.AUC=area under the curve; BIDMC=Beth Israel Deaconess Medical Center; IENFD=intraepidermal nerve fiber density; MDS-UPDRS=Movement Disorders Society Unified Parkinson's Disease Rating Scale; MSA=multiple system atrophy; NYU=New York University; OHQ=Orthostatic Hypotension Questionnaire; P-SYN=phosphorylated α-synuclein; PD=Parkinson disease; RBD=REM sleep behavior disorder; ROC=receiver operating characteristic; UMSARS=Unified Multiple System Atrophy Rating Scale; UPSIT=University of Pennsylvania Smell Identification Test %U //www.ebmtp.com/content/neurology/100/15/e1529.full.pdf