Szpisjak, L., Zsindely, N., Engelhardt, J.I., et al. (2017) Novel AARS2 Gene Mutation Producing Leukodystrophy: A Case Report. Journal of Human Genetics, 62, 329-333.
https://doi.org/10.1038/jhg.2016.126

has been cited by the following article:

• TITLE: Novel AARS2 Gene Mutation Producing Leukodystrophy: A Patient with Peripheral Demyelinating Polyneuropathy

  AUTHORS: David S. Younger

  KEYWORDS: AARS2 Mutation, Leukodystrophy, Lyme Neuroborreliosis, Magnetic Resonance Imaging, Electrodiagnostic Studies, Cerebrospinal Fluid, Epidermal Nerve Fibers, Sural Nerve, Muscle Biopsy, IVIg

  JOURNAL NAME: World Journal of Neuroscience, Vol.9 No.4, September 12, 2019

  ABSTRACT: Novel AARS2 gene mutations encoding mitochondrial alanyl-tRNA synthetase are important in the spectrum of different phenotypes expressed in the nervous system. Leukodystrophy and ovarian failure in females are common phenotypes. Peripheral demyelination is not a recognized aspect of the AARS2 phenotype. A patient with preceding Lyme neuroborreliosis developed progressive leukodystrophy and peripheral demyelinating motor polyneuropathy. Serial magnetic resonance imaging showed progressive inflammatory demyelination extending to the corticospinal tracts. Treatment with a standard of care of antibiotics and immune-modulatory therapy employing intravenous immune globulin was employed. The contribution of neuroborreliosis is not well understood in the expression of the AARS2 phenotype.