Capucine Piat, Owen A. Ross, Wolfdieter Springer, Eduardo E. Benarroch, J. Layne Moore, Emily Lauer, Zhiyv Niu, Rodolfo Savica
{"title":"帕金森病中的含缬氨苷蛋白致病变体 p.R487H","authors":"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","DOIUrl":null,"url":null,"abstract":"<div><p>We describe a 66-year-old woman with Parkinson’s disease, carrying a known pathogenic missense variant in the Valosin-containing-protein (<em>VCP</em>) 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 <em>VCP</em>(NM_007126.5), chr9 (GRCh3 7):g.35060820C > T, c.1460G > A p.Arg487His (p.R487H).</p></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"10 ","pages":"Article 100236"},"PeriodicalIF":1.9000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2590112524000057/pdfft?md5=e55fd004326e5eadac7a281cd165485b&pid=1-s2.0-S2590112524000057-main.pdf","citationCount":"0","resultStr":"{\"title\":\"Valosin-containing-protein pathogenic variant p.R487H in Parkinson’s disease\",\"authors\":\"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\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>We describe a 66-year-old woman with Parkinson’s disease, carrying a known pathogenic missense variant in the Valosin-containing-protein (<em>VCP</em>) 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 <em>VCP</em>(NM_007126.5), chr9 (GRCh3 7):g.35060820C > T, c.1460G > A p.Arg487His (p.R487H).</p></div>\",\"PeriodicalId\":33691,\"journal\":{\"name\":\"Clinical Parkinsonism Related Disorders\",\"volume\":\"10 \",\"pages\":\"Article 100236\"},\"PeriodicalIF\":1.9000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S2590112524000057/pdfft?md5=e55fd004326e5eadac7a281cd165485b&pid=1-s2.0-S2590112524000057-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Parkinsonism Related Disorders\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2590112524000057\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Parkinsonism Related Disorders","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2590112524000057","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Valosin-containing-protein pathogenic variant p.R487H in Parkinson’s disease
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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