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Leukoencephalopathy with brain stem and spinal cord involvement - high lactate

Orpha number ORPHA137898
Synonym(s) LBSL
Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Childhood
ICD-10
  • E75.2
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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.


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Detailed information

Review article
  • EN (2011)
Clinical genetics review
  • EN (2010)
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