Hypomyelination with brainstem and spinal cord involvement and leg spasticity

Definition:

Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) is characterized by focal cerebral white matter abnormalities and spinal cord signal abnormalities. HBSL is the result of mutations in DARS, a cytoplasmic tRNA synthetase gene.

References:

[1]. Guy Helman, et al. Disease specific therapies in leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015 Apr;114(4):527-36. [Content Brief]

[2]. Ryan J Taft, et al. Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. Am J Hum Genet. 2013 May 2;92(5):774-80. [Content Brief]

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