Valosin-containing-protein pathogenic variant p.R487H in Parkinson’s disease

IF 1.9 Q3 CLINICAL NEUROLOGY

Clinical Parkinsonism Related Disorders Pub Date : 2024-01-01 DOI:10.1016/j.prdoa.2024.100236

Capucine Piat, Owen A. Ross, Wolfdieter Springer, Eduardo E. Benarroch, J. Layne Moore, Emily Lauer, Zhiyv Niu, Rodolfo Savica

引用次数: 0

Abstract

We describe a 66-year-old woman with Parkinson’s disease, carrying a known pathogenic missense variant in the Valosin-containing-protein (VCP) gene. She responded excellently to L-dopa, had no cognitive or motoneuronal dysfunction. Laboratory analyses and MRI were unremarkable. Genetic testing revealed a heterozygous variant in VCP(NM_007126.5), chr9 (GRCh3 7):g.35060820C > T, c.1460G > A p.Arg487His (p.R487H).

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帕金森病中的含缬氨苷蛋白致病变体 p.R487H

我们描述了一名患有帕金森病的 66 岁女性患者，她的缬氨酸含蛋白（VCP）基因携带一个已知的致病性错义变体。她对左旋多巴反应良好，没有认知或运动神经元功能障碍。实验室分析和核磁共振成像均无异常。基因检测显示，她的 VCP(NM_007126.5) chr9 (GRCh3 7) 基因存在杂合变异：g.35060820C > T, c.1460G > A p.Arg487His (p.R487H)。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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