leukoencephalopathy with brainstem & spinal cord involvement & lactate elevation (LBSL)
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Genetics
- autosomal recessive
- associated with defects in DARS2 are a cause of
Clinical manifestations
- slowly progressive cerebellar ataxia
- spasticity
- dorsal column dysfunction
- sometimes, a mild cognitive impairment
Radiology
- magnetic resonance imaging
- characteristic constellation of findings