학술논문
Valosin-containing-protein pathogenic variant p.R487H in Parkinson's disease.
Document Type
Academic Journal
Author
Piat C; Department of Neurology, Mayo Clinic, Rochester, MN, USA.; Ross OA; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.; Springer W; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.; Benarroch EE; Department of Neurology, Mayo Clinic, Rochester, MN, USA.; Layne Moore J; Department of Neurology, Mayo Clinic, Rochester, MN, USA.; Lauer E; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Niu Z; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Savica R; Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Source
Publisher: Elsevier Ltd Country of Publication: England NLM ID: 101761473 Publication Model: eCollection Cited Medium: Internet ISSN: 2590-1125 (Electronic) Linking ISSN: 25901125 NLM ISO Abbreviation: Clin Park Relat Disord Subsets: PubMed not MEDLINE
Subject
Language
English
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).
Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(© 2024 Published by Elsevier Ltd.)
Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(© 2024 Published by Elsevier Ltd.)