A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family.
Julian TheurietSheila MarteArnaud IsapofAlix de BecdelièvreMarina KonyukhStephanie M Laureano-FigueroaPhilippe LatourIsabelle QuadrioThierry MaisonobeAnthony AntonellisKristl G ClaeysPublished in: Journal of the peripheral nervous system : JPNS (2024)
Our findings expand the clinical spectrum of NARS1-associated neuropathies, highlighting the association of NARS1 mutations with dHMN. The benign disease course observed in our patients suggests a slowly progressive phenotype. Further reports could contribute to a more comprehensive understanding of the spectrum of NARS1-associated neuropathies.