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

Piat, Capucine; Ross, Owen A; Springer, Wolfdieter; Benarroch, Eduardo E; Layne Moore, J; Lauer, Emily; Niu, Zhiyv; Savica, Rodolfo.

Afiliação

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 em En | MEDLINE | ID: mdl-38283104

ABSTRACT

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).

Palavras-chave

Missense variant; Parkinson's disease; Valosin-containing-protein (VCP) pathogenic variant

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Clin Park Relat Disord Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Estados Unidos

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