2024-01-01
Valosin-containing-protein pathogenic variant p.R487H in Parkinson’s disease
2024-01-01 • Capucine Piat, Owen A. Ross, Wolfdieter Springer, Eduardo E. Benarroch, James L. Moore, Emily Lauer, Zhiyv Niu, Rodolfo Savica
We describe a 66-year-old woman with Parkinson's disease, carrying a known pathogenic missense variant in the Valosin-containing-protein (<i>VCP</i>) 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 <i>VCP</i>(NM_007126.5), chr9 (GRCh3 7):g.35060820C > T, c.1460G > A p.Arg487His (p.R487H).