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

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

CLINICAL PARKINSONISM & RELATED DISORDERS（2024）

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摘要

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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关键词

Valosin-containing-protein (VCP) pathogenic,variant,Parkinson's disease,Missense variant

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