The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Jan SenderekPetra LassuthovaDagmara KabzińskaLisa AbreuJonathan BaetsChristian BeetzGeir J BraathenDavid BrennerJoline DaltonLois DankwaTine DeconinckPeter De JongheBianca DrägerKatja EggermannMelina EllisCarina FischerTanya StojkovicDavid N HerrmannRita HorvathHelle HøyerStephan IglsederMarina KennersonKatharina KinslechnerJennefer N KohlerIngo KurthNigel G LaingPhillipa J LamontLöscher Wolfgang NAlbert LudolphWilson MarquesGarth NicholsonRoyston OngSusanne PetriGianina RavenscroftAdriana RebeloGiulia RicciSabine Rudnik-SchönebornAnja SchirmacherBeate Schlotter-WeigelLudger SchoelsRebecca SchüleMatthis SynofzikBruno FrancouTim M StromJohannes WagnerDavid WalkJulia WanschitzDaniela WeinmannJochen WeishauptManuela WiessnerReinhard WindhagerPeter YoungStephan ZüchnerStefan ToegelPavel SeemanAndrzej KochańskiMichaela Auer-GrumbachPublished in: Neurology (2020)
A detectable fraction of unexplained late-onset axonal neuropathies is genetically determined, by variants in either CMT genes or genes involved in other conditions that affect the peripheral nerves and can mimic a CMT phenotype. MME variants can act as completely penetrant recessive alleles but also confer dominantly inherited susceptibility to axonal neuropathies in an aging population.