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

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.

ORPHA:137898

Classification level: Disorder
  • 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: E88.8
  • OMIM: 611105
  • UMLS: C1970180
  • MeSH: -
  • GARD: 12652
  • MedDRA: -

Summary

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.

- Last update: April 2008

  A summary on this disease is available in Deutsch (2008) Español (2008) Français (2008) Italiano (2008) Nederlands (2008) Português (2008)

Detailed information

Guidelines

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.