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

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).

Keywords

• Valosin-containing-protein (VCP) pathogenic variant
• Parkinson’s disease
• Missense variant