Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Dora Batia Dyne SteelMichael ZechChen ZhaoKaty E S BarwickDerek BurkeDiane DemaillyKishore R KumarGiovanna ZorziNardo NardocciRauan KaiyrzhanovMatias WagnerArcangela IusoRiccardo BeruttiMatej ŠkorvánekJán NecpálRyan DavisSarah WiethoffKshitij MankadSniya SudhakarArianna FerriniSuvasini SharmaErik-Jan KamsteegMarina A TijssenCorien VerschuurenMartje E van EgmondJoanna M FlowersMeriel McEntagartArianna TucciPhilippe CoubesBernabe I BustosPaulina Gonzalez-LatapiStephen TischPaul DarvenizaKathleen M GormanKathryn J PeallKai BötzelJan C KochTomasz KmiećBarbara PleckoSylvia BoeschBernhard HaslingerRobert JechBarbara GaravagliaNick WoodHenry HouldenPaul GissenSteven J LubbeCarolyn M SueLaura CifNiccolò E MencacciGlenn AndersonManju A KurianJuliane Winkelmannnull nullPublished in: Annals of neurology (2020)
Our study strongly supports a role for HOPS complex dysfunction in the pathogenesis of dystonia, although variants in different subunits display different phenotypic and inheritance characteristics. ANN NEUROL 2020;88:867-877.