Leukoencephalopathy with thalamus and brainstem involvement and high lactate (or LTBL)

Leukoencephalopathy with thalamus and brainstem involvement and high lactate (or LTBL) is an extremely rare genetic disorder in the family of leukodystrophies. Its prevalence is less than one in 1,000,000. It is one of the hypomyelinating leukodystrophies, those white matter pathologies characterised by a permanent deficit of myelin in the brain. Because the syndrome is so rare, not much is known about the disease and very little information is available. LTBL syndrome begins in early childhood. It is characterised by abnormalities in certain areas of the brain, including the thalamus and brain stem (the part of the brain that connects to the spinal cord), and by high levels of a substance called lactate in the brain and throughout the body. The syndrome usually leads to motor problems and problems controlling muscle function. The gene whose mutation is responsible for LTBL syndrome is the EARS2 gene which is located on chromosome 16 (at 16p12.2). This gene codes for a protein, glutamyl-tRNA synthetase , which is involved in the manufacture of proteins in mitochondria.