Vaughan D P, Fumi R, Theilmann Jensen M, Georgiades T, Wu L, Lux D, Obrocki R, Lamoureux J, Ansorge O, Allinson Ksj, Warner T T, Jaunmuktane Z, Misbahuddin A, Leigh P N, Ghosh Bcp, Bhatia K P, Church A, Kobylecki C, Hu Mtm, Rowe J B, Blauwendraat C, Morris H R, Jabbari E
medRxiv. 2024 Feb 29:2024.02.28.24303478. doi: 10.1101/2024.02.28.24303478.
Seed amplification assay (SAA) testing has become an important biomarker in the diagnosis of alpha-synuclein related neurodegenerative disorders.
To assess the rate of alpha-synuclein SAA positivity in progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS), and analyse the clinical and pathological features of SAA positive and negative cases.
106 CSF samples from clinically diagnosed PSP (n=59), CBS (n=37) and indeterminate parkinsonism cases (n=10) were analysed using alpha-synuclein SAA.
Three cases (1 PSP, 2 CBS) were Multiple System Atrophy (MSA)-type SAA positive. 5/59 (8.5%) PSP cases were Parkinson's disease (PD)-type SAA positive, and these cases were older and had a shorter disease duration compared with SAA negative cases. In contrast, 9/35 (25.7%) CBS cases were PD-type SAA positive.
Our results suggest that PD-type seeds can be detected in PSP and CBS using a CSF alpha-synuclein SAA, and in PSP this may impact on clinical course.
种子扩增分析（SAA）检测已成为α-突触核蛋白相关神经退行性疾病诊断中的一项重要生物标志物。
评估进行性核上性麻痹（PSP）和皮质基底节综合征（CBS）中α-突触核蛋白SAA阳性率，并分析SAA阳性和阴性病例的临床及病理特征。
使用α-突触核蛋白SAA分析106份来自临床诊断为PSP（n = 59）、CBS（n = 37）和不确定型帕金森病病例（n = 10）的脑脊液样本。
3例（1例PSP，2例CBS）为多系统萎缩（MSA）型SAA阳性。5/59（8.5%）的PSP病例为帕金森病（PD）型SAA阳性，与SAA阴性病例相比，这些病例年龄更大且病程更短。相比之下，9/35（25.7%）的CBS病例为PD型SAA阳性。
我们的结果表明，使用脑脊液α-突触核蛋白SAA可在PSP和CBS中检测到PD型种子，在PSP中这可能会影响临床病程。
