Abstract
Firstly described by Van Berge et al. in 2003, leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is an autosomal recessive inherited leukoencephalopathy caused by compound heterozygous mutations in the DARS2gene, which codes the mitochondrial aspartyl-tRNA synthetase. The disease is included in a list of rare diseases that have been established by TheMinistry of Health. LBSL mainly affects children and juvenile patients with a slow progressive cerebellar ataxia with spastic paraparesis and proprioceptive loss. The diagnosis of LBSL can be made with confidence in persons with characteristic abnormalities observed on brain and spinal cord MRI and genetic test. The treatment of LBSL doesn’t exist.
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