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.