Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.
Philip HarrerMatej SkorvanekVolker KittkeIvana DzinovicFriederike BorngräberMirja ThomsenVanessa MandelTatiana SvorenovaMiriama OstrozovicovaKristina KulcsarovaRiccardo BeruttiHauke BuschFabian OttRobert KopajtichHolger ProkischKishore Raj KumarNiccolò Emanuele MencacciManju A KurianAlessio di FonzoSylvia BoeschAndrea A KühnUlrike BlümleinKatja LohmannBernhard HaslingerDavid WeiseRobert JechJuliane WinkelmannMichael ZechPublished in: Movement disorders : official journal of the Movement Disorder Society (2023)
Our findings demonstrate that EIF4A2 haploinsufficiency underlies a previously unrecognized dominant dystonia-tremor syndrome. The data imply that translational deregulation is more broadly linked to both early neurodevelopmental phenotypes and later-onset dystonic conditions. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.