Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant

Aminoacyl-tRNA synthetase-interacting multifunctional protein 1 (AIMP1) is a non-catalytic component of the multi-tRNA synthetase complex that catalyzes the ligation of amino acids to their correct tRNAs. Bi-allelic truncating variants in the AIMP1 gene have been associated with hypomyelinating leukodystrophy-3 (HLD3; MIM 260600), which is characterized by hypomyelination, microcephaly, seizures and decreased life expectancy. Although peripheral nerve involvement has been assumed for HLD3, no compelling evidence is available to date.

Source: Brain and Development - January 2, 2021 Category: Neurology Authors: Ikumi Hori, Daisuke Ieda, Shogo Ito, Seimi Ebe, Yuji Nakamura, Kei Ohashi, Kohei Aoyama, Ayako Hattori, Minoru Kokubo, Shinji Saitoh Tags: Case Report Source Type: research