Novel <i>AARS</i>2 Gene Mutation Producing Leukodystrophy: A Patient with Peripheral Demyelinating Polyneuropathy  

作　　者：David S. Younger[1] 

出　　处：《World Journal of Neuroscience》2019年第4期224-228,共5页神经科学国际期刊（英文）

摘　　要：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.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.

关 键 词：AARS2 Mutation LEUKODYSTROPHY Lyme NEUROBORRELIOSIS Magnetic Resonance Imaging Electrodiagnostic Studies Cerebrospinal Fluid Epidermal NERVE Fibers SURAL NERVE Muscle Biopsy IVIg 

分 类 号：R73[医药卫生—肿瘤]