Hyperkinetic Movement Disorder in <i>KARS1</i>-Related Disease: An Illustrative Video-Recorded Case and Narrative Literature Review.

ABSTRACT:

Background

Aminoacyl-tRNA synthetases (ARSs) are a group of enzymes responsible for the first step of protein translation. Among them, the KARS1 gene encodes lysyl-tRNA synthetase 1, an enzyme essential for charging tRNA-Lys with lysine in both the cytoplasm and mitochondria. Mutations in KARS1 are associated with a wide range of clinical phenotypes, including leukoencephalopathy, hereditary deafness, peripheral neuropathies, and multisystemic involvement.

Methods

We hereby report a detailed case study of a 15-month-old boy presenting at age 5 months with developmental delay, microcephaly, hypotonia, sensorineural deafness, retinopathy, visual impairment, nystagmoid eye movements, and hepatic and immuno-hematological abnormalities. In addition, he exhibited a severe hyperkin

SUBMITTER: Ferasin V 

PROVIDER: S-EPMC12472568 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature