Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the DARS2 gene, encoding aspartate--tRNA ligase, mitochondrial. It is characterized by slowly developing progressive cerebellar ataxia, spasticity, dorsal column dysfunction, and may also include a mild cognitive deficit or decline.

**Synonyms:** - LBSL