Publications
LBSL Research Library
Although LBSL was first discovered in 2004, meaningful studies of the DARS2 gene — which determines LBSL — were not published until 2012. As a result of our efforts, the first comprehensive LBSL research program launched in 2016 at Kennedy Krieger Institute in Baltimore. Here are some highlights that have been published over the years.
Featured Publications
2025
AAV9-DARS2 Gene Therapy Rescues Phenotype in Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Patient Cells and Neuronal DARS2 Deficient Mice
2025
Aminolevulinate/Iron Exposure Elicited Nrf-2-Mediated Cytoprotection in DARS2 Deficient Fibroblasts With Impaired Energy and Antioxidant Metabolisms
2022
Wearable Sensors Detect Impaired Gait and Coordination in LBSL During Remote Assessments
2021
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
2019
Mitochondrial Aminoacyl-tRNA Synthetase Disorders: An Emerging Group of Developmental Disorders of Myelination
2014
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: Clinical and Genetic Characterization and Target for Therapy
2003
A New Leukoencephalopathy with Brainstem and Spinal Cord Involvement and High Lactate