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

doi:10.1016/j.prdoa.2024.100236

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

Clin Park Relat Disord. 2024 Jan 18:10:100236. doi: 10.1016/j.prdoa.2024.100236. eCollection 2024.

Authors

Capucine Piat¹, Owen A Ross², Wolfdieter Springer², Eduardo E Benarroch¹, J Layne Moore¹, Emily Lauer³, Zhiyv Niu^{3

4}, Rodolfo Savica¹

Affiliations

¹ Department of Neurology, Mayo Clinic, Rochester, MN, USA.
² Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
³ Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
⁴ Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.

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: Missense variant; Parkinson’s disease; Valosin-containing-protein (VCP) pathogenic variant.