Valosin-containing-protein pathogenic variant p.R487H in Parkinson’s disease
Year: 2024
Type: article
Study design: Case Report
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).
Authors: Capucine Piat, Owen A. Ross, Wolfdieter Springer, Eduardo E. Benarroch, J. Layne Moore, Emily Lauer, Zhiyv Niu, Rodolfo Savica
Institutions: Mayo Clinic, Mayo Clinic in Florida
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,400
Funders: Michael J. Fox Foundation for Parkinson's Research, American Academy of Neurology, American Parkinson Disease Association, BrightFocus Foundation, ACADIA Pharmaceuticals, Ted Nash Long Life Foundation, National Institute on Aging, National Heart, Lung, and Blood Institute, National Institute of Diabetes and Digestive and Kidney Diseases, National Institute of Neurological Disorders and Stroke
OpenAlex ID: W4390976556