BackgroundPatients with type 1 Gaucher disease (GD1) have a significantly increased risk of developing Parkinson's disease (PD).ObjectiveThe objective of this study was to evaluate skin α‐synuclein (αSyn) seeding activity as a biomarker for GD1‐related PD (GD1‐PD).MethodsThis 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.ResultsForty‐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.ConclusionsLongitudinal 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.

中文翻译：

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1 型戈谢病患者皮肤 α-突触核蛋白播种活性


背景 1 型戈谢病 (GD1) 患者患帕金森病 (PD) 的风险显着增加。 目的本研究的目的是评估皮肤 α-突触核蛋白 (αSyn) 播种活性作为 GD1 相关 PD 的生物标志物 (GD1-方法这项单中心研究对 GD1 成年患者进行了运动和认知检查以及非运动症状问卷调查。可选的皮肤活检采用实时震动诱导转换测定进行皮肤 αSyn 种子扩增测定 (αSyn SAA)。 结果 49 名患者入组，其中 36 名接受了皮肤活检。两名研究参与者患有帕金森病。 10 名参与者的 αSyn SAA 呈阳性（27.8%），7 名（19.4%）为中间，19 名（52.8%）为阴性。在同意活检的单个 GD1-PD 病例中观察到阳性 αSyn 播种活性。 αSyn SAA 阳性与年龄相关（p = 0.043），尽管 αSyn SAA 阳性在 GD1 患者中比历史对照组更普遍。结论需要进行纵向随访以确定皮肤 αSyn 播散活性是否可以作为 GD1 的早期生物标志物‐ PD。 © 2024 作者。 《运动障碍》由 Wiley periodicals LLC 代表国际帕金森和运动障碍协会出版。