leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Findings
No curated finding names leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This disease is characterized by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.
Definition from the Mondo Disease Ontology (MONDO:0012622), read 2026-09-29. CC BY 4.0.
Features
50 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal spinal cord dorsal column morphologyHPOHP:0011397
- Very frequent (80% to 99% of cases)
- Abnormal cerebellum morphologyHPOHP:0001317
- Frequent (30% to 79% of cases)
- Abnormal speech patternHPOHP:0002167
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- ClumsinessHPOHP:0002312
- Frequent (30% to 79% of cases)
- Distal muscle weaknessHPOHP:0002460
- Frequent (30% to 79% of cases)
- Dysarthria
Show the remaining 38
- Spastic ataxiaHPOHP:0002497
- Frequent (30% to 79% of cases)
- TremorHPOHP:0001337
- Frequent (30% to 79% of cases)
- Unsteady gaitHPOHP:0002317
- Frequent (30% to 79% of cases)
- Upper motor neuron dysfunctionHPOHP:0002493
- Frequent (30% to 79% of cases)
- Diminished deep tendon reflexHPOHP:0001315
- Occasional (5% to 29% of cases)
- HyporeflexiaHPOHP:0001265
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DARS2HGNC:25538
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- Also called
- LBSLLeukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevationleukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome