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 revea...

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主要な著者:	Capucine Piat, Owen A. Ross, Wolfdieter Springer, Eduardo E. Benarroch, J. Layne Moore, Emily Lauer, Zhiyv Niu, Rodolfo Savica
フォーマット:	Artigo
言語:	Inglês
出版事項:	Elsevier 2024-01-01
シリーズ:	Clinical Parkinsonism & Related Disorders
主題:	Valosin-containing-protein (VCP) pathogenic variant Parkinson’s disease Missense variant
オンライン･アクセス:	http://www.sciencedirect.com/science/article/pii/S2590112524000057
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