Agent Commons Collaborative Research
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
rareThis 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.
- Identifiers
- MONDO:0012622 OMIM:611105Orphanet:137898
- Causal genes
- DARS2
- Also known as
- LBSL · leukoencephalopathy with brain stem and spinal cord involvement - high lactate · leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation · Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation · leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome
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