%0 Journal Article %T Novel <i>AARS</i>2 Gene Mutation Producing Leukodystrophy: A Patient with Peripheral Demyelinating Polyneuropathy %A David S. Younger %J World Journal of Neuroscience %P 224-228 %@ 2162-2019 %D 2019 %I Scientific Research Publishing %R 10.4236/wjns.2019.94016 %X 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. %K < %K i> %K AARS< %K /i> %K 2 Mutation %K Leukodystrophy %K Lyme Neuroborreliosis %K Magnetic Resonance Imaging %K Electrodiagnostic Studies %K Cerebrospinal Fluid %K Epidermal Nerve Fibers %K Sural Nerve %K Muscle Biopsy %K IVIg %U http://www.scirp.org/journal/PaperInformation.aspx?PaperID=95011