Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL) is a rare, hereditary neurodegenerative disease.
The disease is characterized by slowly progressive cerebellar ataxia and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most individuals.
[1] While tendon reflexes are retained, neurological dysfunction occurs in the arms and the legs with the latter being more affected.
[2] The most common symptoms experienced in LBSL are:[3] LBSL is caused by an abnormal variant on in the DARS2 gene.
Genes provide instructions for creating proteins that play a critical role in many functions of the body.