Evaluation of cerebrospinal fluid alpha-synuclein seed amplification assay in PSP and CBS

Evaluation of cerebrospinal fluid alpha-synuclein seed amplification assay in PSP and CBS
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PSP 和 CBS 中脑脊液 α-突触核蛋白种子扩增测定的评价

DOI:
10.1101/2024.02.28.24303478
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发表时间:
2024
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通讯作者:
Vaughan D
Vaughan D
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作者:
Vaughan D

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种子扩增试验(SAA)检测已成为诊断α -突触核蛋白相关神经退行性疾病的重要生物标志物。目的评价进行性核上性麻痹(PSP)和皮质基底综合征(CBS)患者α -突触核蛋白SAA阳性率,分析SAA阳性和阴性病例的临床和病理特征。方法采用α -突触核蛋白SAA对临床诊断为PSP(59例)、CBS(37例)和未确诊的帕金森病(10例)106例脑脊液样本进行分析。结果3例(1例PSP, 2例CBS)为多系统萎缩(MSA)型SAA阳性。5/59 (8.5%) PSP病例为帕金森病(PD)型SAA阳性,与SAA阴性病例相比,年龄较大,病程较短。相比之下,9/35 (25.7%)CBS病例为pd型SAA阳性。结论脑脊液α -突触核蛋白SAA可在PSP和CBS中检测到pd型种子,这可能影响PSP的临床病程。
BackgroundSeed amplification assay (SAA) testing has become an important biomarker in the diagnosis of alpha-synuclein related neurodegenerative disorders.ObjectivesTo 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.Methods106 CSF samples from clinically diagnosed PSP (n=59), CBS (n=37) and indeterminate parkinsonism cases (n=10) were analysed using alpha-synuclein SAA.ResultsThree 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.ConclusionsOur 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.