What is LBSL?
LBSL stands for Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation. It’s a rare genetic disorder that affects the brain and spinal cord. There are thought to be approximately 100 to 300 patients worldwide, but many people go undiagnosed or misdiagnosed.
LBSL is caused by mutations in the DARS2 gene. DARS2 provides the body with instructions for making an enzyme called mitochondrial aspartyl-tRNA synthetase. This enzyme helps with production of proteins in the mitochondria — the energy factories of our cells, which turn nutrients into energy — and is essential for myelin, the white matter that insulates nerves.
As a result of DARS2 mutations, certain parts of the nervous system do not have sufficient energy to function properly. This affects their function and the production of nerve coatings, called myelin. Much like the plastic coating around the wires in your home, myelin provides insulation to the nervous system and is essential for the transmission of signals from the brain to the rest of the body.
-
Known symptoms include:
Ataxia and balance impairment
Loss of the ability to sense the position of their limbs and vibrations
Loss of the ability to walk independently. Many patients eventually require mobility aids and wheelchairs
Muscle stiffness or weakness and difficulty with coordination
Fine motor challenges, including hand tremors
Seizures, speech difficulties, learning disabilities, or cognitive dysfunction
Some people with this disorder are particularly vulnerable to severe complications following head trauma or fevers, including regressions
-
LBSL is inherited in an autosomal recessive manner, meaning most patients have inherited two copies of a mutation — one from each parent. Parents who are carriers of the DARS2 mutation have a 25% chance of having a child with LBSL.
-
LBSL is often diagnosed after symptom onset leads to an MRI. Genetic testing confirms the diagnosis.
-
Unfortunately, there are currently no definitive, long-term treatments for LBSL. That’s why Cure LBSL exists.
Supportive therapies for LBSL patients include:
Physical therapy and rehabilitation
Anti-epileptic drugs
Special education
Speech therapy
Some patients with LBSL take a combination of antioxidants, often referred to as a mitochondrial cocktail, under the guidance of a doctor in an effort to try to help energy production in the brain and spinal cord. While the use of these antioxidants has not been systematically studied, and it is uncertain if their use will improve the long-term outcome of LBSL, some patients and families attribute positive results to the cocktail.
