Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL)
Hypomyelinating leukodystrophy
Pediatric diseases
General description
Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) is an autosomal recessive leukodystrophy caused by pathogenic variants in the DARS1 gene, which encodes cytoplasmic aspartyl-tRNA synthetase (AspRS).
The disease typically manifests in infancy and is characterized by motor impairment, stagnation in motor development, and a decline in motor milestones. Although early development may be normal, affected individuals do not acquire independent walking. Common symptoms include spasticity, particularly in the lower limbs, ataxia, nystagmus, and, in some cases, cognitive impairment.
References
- Taft, Ryan J., et al. "Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity." The American Journal of Human Genetics 92.5 (2013): 774-780.
Non-Space occupying lesion
White matter lesion
Non-Space occupying lesion
Cerebellar peduncle lesion
The superior and inferior cerebellar peduncles are involved in HSBL.
Non-Space occupying lesion
Corticospinal tract lesion
Non-Space occupying lesion