Two clinical cases of LBSL: Diagnostic problems and possible therapeutic approaches
Year: 2019
Type: article
Abstract: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare autosomal-recessive disease which is first described by Marjo van der Knaap in 2003.[1] Currently, there are less than 200 clinical cases of LBSL presented in the literature.LBSL is caused by mutations in the DARS2 gene that encodes the mitochondrial aspartyl-tRNA synthetase.Decrease in the activity of mitochondrial aspartil-tRNA synthetase leads to the non-inclusion of aspartic acid residue in the structure of all mitochondrial proteins and to the disruption of redox processes in the cell, as well as to the activation of the histotoxic hypoxia mechanism.[2] Magnetic resonance imaging (MRI) features of LBSL are very characteristic and allow to establish a preliminary diagnosis before genetic examination.[3] The disease is characterized by slowly progressive pyramidal disorders, ataxia and decreased proprioception.[4] No specific LBSL therapy has been developed.[5] Based on the pathogenesis, therapy may include the use of antioxidants and antihypoxants.
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W2990767673