Novel AARS2 Gene Mutation Producing Leukodystrophy: A Patient with Peripheral Demyelinating Polyneuropathy - World Journal of Neuroscience

WJNS > Vol.9 No.4, November 2019

World Journal of Neuroscience

Volume 9, Issue 4 (November 2019)

ISSN Print: 2162-2000 ISSN Online: 2162-2019

Google-based Impact Factor: 0.23 Citations h5-index & Ranking

Novel AARS2 Gene Mutation Producing Leukodystrophy: A Patient with Peripheral Demyelinating Polyneuropathy ()

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DOI: 10.4236/wjns.2019.94016 461 Downloads 1,168 Views Citations

Author(s)

David S. Younger^1,2

Affiliation(s)

¹Department of Clinical Medicine, CUNY School of Medicine, City College, New York, NY, USA.
²The Graduate School of Public Health and Health Policy, City University of New York, New York, NY, USA.

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.

KEYWORDS

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

Share and Cite:

Younger, D. (2019) Novel AARS2 Gene Mutation Producing Leukodystrophy: A Patient with Peripheral Demyelinating Polyneuropathy. World Journal of Neuroscience, 9, 224-228. doi: 10.4236/wjns.2019.94016.

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