DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder.

ABSTRACT:

Objective

To describe the expanding clinical spectrum of a recently described hereditary leukoencephalopathy, hypomyelination with brainstem and spinal cord involvement and leg spasticity, which is caused by mutations in the aspartyl tRNA-synthetase encoding gene DARS, including patients with an adolescent onset.

Methods

Three patients with mutations in DARS were identified by combining MRI pattern recognition and genetic analysis.

Results

One patient had the typical infantile presentation, but 2 patients with onset in late adolescence had a disease mimicking an acquired inflammatory CNS disorder. Adolescent-onset patients presented with subacute spastic paraplegia and had positive response to steroids. They had only minor focal supratentorial white matter abnormaliti

SUBMITTER: Wolf NI 

PROVIDER: S-EPMC4335995 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature