An autosomal recessive hypomyelinating disorder caused by a mutation in the DARS gene on chromosome 2q21. Patients present in the first year of life with severe spasticity.
On imaging patients have diffuse increased T2 of the white matter, thinning of the corpus callosum, T2 hyperintensity of the ventral pon, ventral medulla, and inferior cerebellar peduncles. They may also have increased T2 signal of the dorsal column of the spinal cord. MRS shows increased lactate