Peripheral neuropathy and cognitive impairment associated with a novel monoallelic <i><scp>HARS</scp></i> variant

Abstract

Genetic variants in the genes coding for the different aminoacyl-tRNA synthases are associated with various clinical conditions. To date, a number of HARS variant have been associated with peripheral neuropathy, but not cognitive deficits. Further studies are needed to explore why HARS mutations confer a neuronal-specific phenotype.