Leukodystrophy - adult onset
Gene: DARS
Onset typically in infancy with lower limb spasticity. Brain MRI shows extensive white matter abnormalities involving the supratentorial white matter, brainstem, cerebellar peduncles, and dorsal columns and lateral corticospinal tracts of the spinal cord. However, two individuals with adolescent onset described in 25527264, mimicking steroid-responsive neuroinflammatory disorder. HGNC approved name DARS1.Created: 3 May 2020, 11:31 p.m. | Last Modified: 3 May 2020, 11:31 p.m.
Panel Version: 0.45
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
Publications
Gene: dars has been classified as Green List (High Evidence).
Publications for gene: DARS were set to
Tag new gene name tag was added to gene: DARS.
gene: DARS was added gene: DARS was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281