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leukoencephalopathy with brainstem & spinal cord involvement & lactate elevation (LBSL)
Genetics:
- autosomal recessive
- associated with defects in DARS2 are a cause of
Radiology:
- magnetic resonance imaging
- characteristic constellation of findings
Clinical manifestations:
- slowly progressive cerebellar ataxia
- spasticity
- dorsal column dysfunction
- sometimes, a mild cognitive impairment
General
leukoencephalopathy
genetic disease of the central nervous system
Database Correlations
OMIM 611105
References
- UniProt :accession Q6PI48
- OMIM :accession 611105