Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A.
Carolynne M DochertyJasper M MorrowRiccardo ZuccarinoPaige HowardStephen WastlingMenelaos PipisNick ZafeiropoulosKatherine J StephensTiffany GriderShawna M E FeelyPeggy NopoulousMariola SkorupinskaEvelin MilevEmma NicolaisenMagdalena DudzeicAmy McDowellNuran DilekFrancesco MuntoniAlexander Martin RossorSachit ShahMatilde LauraTarek A YousryDaniel ThedensJohn ThorntonMichael E ShyMary M ReillyPublished in: Annals of clinical and translational neurology (2024)
Our results confirm that calf muscle FF is highly responsive over 12 months in three additional common forms of CMT which together with CMT1A account for 90% of genetically confirmed cases. Calf muscle MRI FF should be a valuable outcome measure in upcoming CMT clinical trials.