Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Departments of Pathology and Neurology, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
Mov Disord. 2024 Nov;39(11):2087-2091. doi: 10.1002/mds.29935. Epub 2024 Jul 18.
Patients with type 1 Gaucher disease (GD1) have a significantly increased risk of developing Parkinson's disease (PD).
The objective of this study was to evaluate skin α-synuclein (αSyn) seeding activity as a biomarker for GD1-related PD (GD1-PD).
This single-center study administered motor and cognitive examinations and questionnaires of nonmotor symptoms to adult patients with GD1. Optional skin biopsy was performed for skin αSyn seed amplification assay (αSyn SAA) using real-time quaking-induced conversion assay.
Forty-nine patients were enrolled, and 36 underwent skin biopsy. Two study participants had PD. Ten participants were αSyn SAA positive (27.8%), 7 (19.4%) were intermediate, and 19 (52.8%) were negative. Positive αSyn seeding activity was observed in the single GD1-PD case who consented to biopsy. αSyn SAA positivity was associated with older age (p = 0.043), although αSyn SAA positivity was more prevalent in patients with GD1 than historic controls.
Longitudinal follow-up is required to determine whether skin αSyn seeding activity can be an early biomarker for GD1-PD. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
1 型戈谢病（GD1）患者发生帕金森病（PD）的风险显著增加。
本研究旨在评估皮肤 α-突触核蛋白（αSyn）的种子扩增活性作为 GD1 相关 PD（GD1-PD）的生物标志物。
该单中心研究对成年 GD1 患者进行了运动和认知检查以及非运动症状问卷评估。对于愿意接受皮肤活检的患者，采用实时液滴式快速循环转化检测（real-time quaking-induced conversion assay）进行皮肤 αSyn 种子扩增检测（αSyn SAA）。
共纳入 49 名患者，其中 36 名接受了皮肤活检。2 名研究参与者患有 PD。10 名参与者的皮肤 αSyn SAA 呈阳性（27.8%），7 名（19.4%）为中间阳性，19 名（52.8%）为阴性。同意活检的唯一 1 例 GD1-PD 患者观察到 αSyn 种子扩增活性阳性。αSyn SAA 阳性与年龄较大相关（p=0.043），尽管 GD1 患者中 αSyn SAA 阳性的比例高于历史对照。
需要进行纵向随访以确定皮肤 αSyn 种子扩增活性是否可以作为 GD1-PD 的早期生物标志物。
