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Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

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

Summary

Disease 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.

Epidemiology

So far, 38 cases have been reported.

Clinical description

Onset occurs in early childhood. Epilepsy and cognitive decline have also been described.

Etiology

The syndrome is caused by mutations in the DARS2 gene, which encodes mitochondrial aspartyl-tRNA synthetase.

Diagnostic methods

MRI reveals inhomogeneous periventricular and deep white matter anomalies, with involvement of the cerebellar connections, the entire length of the pyramidal and sensory tracts.

Genetic counseling

Transmission is autosomal recessive.

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Detailed information

Review article
Clinical genetics review
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