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Valosin-containing-protein pathogenic variant p.R487H in Parkinson's disease.
Piat, Capucine; Ross, Owen A; Springer, Wolfdieter; Benarroch, Eduardo E; Layne Moore, J; Lauer, Emily; Niu, Zhiyv; Savica, Rodolfo.
Affiliation
  • 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.
  • Savica R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Clin Park Relat Disord ; 10: 100236, 2024.
Article in En | MEDLINE | ID: mdl-38283104
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).
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Full text: 1 Database: MEDLINE Language: En Journal: Clin Park Relat Disord Year: 2024 Type: Article Affiliation country: United States
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Full text: 1 Database: MEDLINE Language: En Journal: Clin Park Relat Disord Year: 2024 Type: Article Affiliation country: United States