Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
Diana EstellerMarianela SchiavaRocío-Nur Villar-QuilesBoris DibowskiNadia VenturelliPascal LaforetJorge Alonso-PérezMontse OliveCristina Domínguez-GonzálezCarmen ParadasBeatriz VélezAnna Kostera-PruszczykBiruta KierdaszukCarmelo RodolicoKristl ClaeysEndre PálEdoardo MalfattiSarah SouvannanorathAlicia Alonso-JiménezWillem de RidderEline De SmetGeorge PapadimasConstantinos PapadopoulosSofia XirouSushan LuoNuria MuelasJuan J VilchezAlba Ramos-FransiMauro MonforteGiorgio TascaBjarne UddJohanna PalmioSrtuhi SriSabine KrauseBenedikt SchöserRoberto Fernández-TorrónAdolfo López de MunainElena PegoraroMaria Elena FarrugiaMathias VorgerdGeorgious ManousakisJean Baptiste ChansonAleksandra Nadaj-PaklezaHakan CetinUmesh BadrisingJodi Warman-ChardonJorge BevilacquaNicholas EarleMario CamperoJorge DíazChiseko IkenagaThomas E LloydIchizo NishinoYukako NishimoriYoshihiko SaitoYasushi OyaYoshiaki TakahashiAtsuko NishikawaRyo SasakiChiara Marini-BettoloMichela GuglieriVolker StraubTanya StojkovicRobert Y CarlierJordi Díaz-ManeraPublished in: Journal of neurology (2023)
Patients with mutations in the VCP gene had common features on muscle MRI that are helpful for diagnosis purposes, including the presence of patchy fat replacement and a prominent involvement of the periscapular, paraspinal, abdominal and thigh muscles.