We describe a 66-year-old woman with Parkinson's disease, carrying a known pathogenic missense variant in the Valosin-containing-protein () 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 (NM_007126.5), chr9 (GRCh3 7):g.35060820C > T, c.1460G > A p.Arg487His (p.R487H).
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10818073 | PMC |
| http://dx.doi.org/10.1016/j.prdoa.2024.100236 | DOI Listing |
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