EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.
Andoni Echaniz-LagunaCécile CauquilJean-Baptiste ChansonCéline TardLucie Guyant-MarechalThierry KuntzerIoana Maria IonAnne-Sophie LiaJérôme BouligandVianney PoinsignonPublished in: Journal of the peripheral nervous system : JPNS (2023)
Our findings demonstrate EGR2 gene-related hereditary neuropathies are rare and slowly progressive demyelinating neuropathies with 2 major clinical presentations, including a childhood-onset variant and an adult-onset variant which may mimic inflammatory neuropathy. Our study also expands the genotypic spectrum of EGR2 gene mutations.