AAV9-DARS2 Gene Therapy Rescues Phenotype in Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Patient Cells and Neuronal Dars2 Deficient Mice.

Abstract excerpt

OBJECTIVE: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare, autosomal recessive disorder caused by variants in the gene DARS2. DARS2 is an essential and ubiquitously expressed enzyme that catalyzes the attachment of aspartate to its cognate tRNA for mitochondrial protein translation. LBSL is clinically characterized by progressive spasticity, ataxia, and...

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