Abstract：
BACKGROUND: Patients with type 1 Gaucher disease (GD1) have a significantly increased risk of developing Parkinson\'s disease (PD).
OBJECTIVE: The objective of this study was to evaluate skin α-synuclein (αSyn) seeding activity as a biomarker for GD1-related PD (GD1-PD).
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
OBJECTIVE: The objective of this study was to evaluate skin α-synuclein (αSyn) seeding activity as a biomarker for GD1-related PD (GD1-PD).
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
摘要：
背景：1型戈谢病（GD1）患者患帕金森病（PD）的风险显著增加。
目的：本研究的目的是评估皮肤α-突触核蛋白（αSyn）作为GD1相关PD（GD1-PD）生物标志物的接种活性。
方法：这项单中心研究对成年GD1患者进行了运动和认知检查以及非运动症状问卷调查。使用实时振动诱导的转化测定对皮肤αSyn种子扩增测定(αSynSAA)进行任选的皮肤活检。
结果：纳入49例患者，36人接受了皮肤活检。两名研究参与者患有PD。10名参与者为αSynSAA阳性（27.8%），7（19.4%）为中级，19例(52.8%)为阴性。在同意活检的单个GD1-PD病例中观察到阳性αSyn接种活性。αSynSAA阳性与年龄相关(p=0.043)，尽管GD1患者的αSynSAA阳性比历史对照更为普遍。
结论：需要纵向随访以确定皮肤αSyn播种活性是否可以成为GD1-PD的早期生物标志物。©2024作者（S）。由WileyPeriodicalsLLC代表国际帕金森症和运动障碍协会出版的运动障碍。
目的：本研究的目的是评估皮肤α-突触核蛋白（αSyn）作为GD1相关PD（GD1-PD）生物标志物的接种活性。
方法：这项单中心研究对成年GD1患者进行了运动和认知检查以及非运动症状问卷调查。使用实时振动诱导的转化测定对皮肤αSyn种子扩增测定(αSynSAA)进行任选的皮肤活检。
结果：纳入49例患者，36人接受了皮肤活检。两名研究参与者患有PD。10名参与者为αSynSAA阳性（27.8%），7（19.4%）为中级，19例(52.8%)为阴性。在同意活检的单个GD1-PD病例中观察到阳性αSyn接种活性。αSynSAA阳性与年龄相关(p=0.043)，尽管GD1患者的αSynSAA阳性比历史对照更为普遍。
结论：需要纵向随访以确定皮肤αSyn播种活性是否可以成为GD1-PD的早期生物标志物。©2024作者（S）。由WileyPeriodicalsLLC代表国际帕金森症和运动障碍协会出版的运动障碍。
