在帕金森症中存在因VCP突变引起的同核蛋白病变的体内证据

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Luigi Bonan¹, Diego D'Angeli¹, Veria Vacchiano²

¹Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, 40139, Italy.

Journal of neural transmission (Vienna, Austria : 1996)

|September 10, 2025

概括

多系统蛋白质病变1 (MSP1),由VCP基因突变引起,很少出现帕金森症. 这项研究显示,MSP1患者皮肤活检中的α-synuclein沉积的第一个体内证据,证实了synucleinopathy.

科学领域:

神经学神经学
遗传学遗传学是一个
病理学病理学病理学

背景情况:

多系统蛋白质病变1 (MSP1) 是一种罕见的遗传疾病,与含瓦洛蛋白 (VCP) 基因突变有关.
MSP1通常表现为包容体肌肉病,帕杰特骨疾病,前性痴呆症和ALS.
帕金森症是MSP1的罕见症状,之前的证据表明神经元同核病变.

研究的目的:

报告与VCP相关的帕金森症病例.
在MSP1患者的皮肤活检中首次在体内证明酸化α-synuclein.
审查与VCP相关的帕金森症文献.

主要方法:

一名76岁的老人患有帕金森症,肌肉病和帕杰特骨疾病的病例报告.
基因检测发现了一种致病性VCP突变 (c.277 C>T; p.R93C).
诊断工作包括神经影像,电肌图像,肌肉活检,神经心理评估,骨头扫描和皮肤活检.

主要成果:

皮肤活检显示了异常的神经内酸化α-synuclein沉积物.
这一发现代表了MSP1.1患者体内第一次检测到同核蛋白病变.
患者呈现出类似性-刚性帕金森症,肌肉病,金字塔形征兆和帕杰特骨疾病.

结论:

在某些个体中,VCP突变可能会导致α-synuclein聚合和帕金森症.
这一案例凸显了皮肤活检在体内检测同核蛋白病变时的诊断效用.
这些发现强化了VCP突变和同核蛋白病变之间的关联.

关键词:

这是一个VCPVCP.多系统蛋白质病变多系统蛋白质病变帕金森症帕金森症皮肤活检皮肤活检综核蛋白病变 (Synucleinopathy) 是一种同核蛋白病变的疾病.

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