Preferred Label : Leukoencephalopathy with brainstem - spinal cord involvement - lactate elevation;
ICD-11 definition : This disease is characterised by progressive cerebellar ataxia with pyramidal and
spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate
in the abnormal white matter. So far, 38 cases have been reported. Onset occurs in
early childhood. Epilepsy and cognitive decline have also been described. MRI reveals
inhomogeneous periventricular and deep white matter anomalies, with involvement of
the cerebellar connections, the entire length of the pyramidal and sensory tracts.
Transmission is autosomal recessive and the syndrome is caused by mutations in the
DARS2 gene, which encodes mitochondrial aspartyl-tRNA synthetase.;
ICD-11 synonym : LBSL - [Leukoencephalopathy with brain stem - spinal cord involvement - lactate elevation]; Leukoencephalopathy with brain stem - spinal cord involvement - lactate elevation;
ICD-11 acronym : LBSL;
Origin ID : 1901486941;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
This disease is characterised by progressive cerebellar ataxia with pyramidal and
spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate
in the abnormal white matter. So far, 38 cases have been reported. Onset occurs in
early childhood. Epilepsy and cognitive decline have also been described. MRI reveals
inhomogeneous periventricular and deep white matter anomalies, with involvement of
the cerebellar connections, the entire length of the pyramidal and sensory tracts.
Transmission is autosomal recessive and the syndrome is caused by mutations in the
DARS2 gene, which encodes mitochondrial aspartyl-tRNA synthetase.
