Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathies.
Alessandro GeroldiAndrea La BarberaAlessia MammiPaola OrigoneAndrea GaudioClarissa PontiFrancesca SanguineriSabrina MatàMartina SpertiIlaria CarboniEmilia BelloneFabio GottaChiara GemelliSara MassuccoGuglielmino ValeriaLucio MarinelliMarina GrandisGiulia BisogniMario SabatelliGiuseppe PiscosquitoGabriella EspositoAngelo SchenoneFiore ManganelliPaola MandichStefano TozzaMarco LuigettiPublished in: Journal of the peripheral nervous system : JPNS (2024)
CM2T has been definitively defined as a late-onset neuropathy, with a typical onset in the fifth to sixth decades of life and a more rapidly progressing worsening for biallelic patients. CMT2T can be included in the neuropathies of the elderly, particularly if MME variants heterozygous patients are included.