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Leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation: a novel mutation in the DARS2
Anudeep Yelam1, Elanagan Nagarajan2, Miguel Chuquilin3
1Neurology, University of Missouri Health Care, Columbia, Missouri, USA.
Abstract:
Leucoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a very rare autosomal recessive, slowly progressive neurological disorder characterised by distinctive clinical findings including cerebellar, pyramidal and dorsal column dysfunction. This is caused by a mutation in the DARS2 gene, which encodes mitochondrial aspartyl-tRNA synthetase. MRI shows distinctive abnormalities in the cerebral white matter and specific brain stem and spinal cord tracts. Here, we present a case of LBSL, with a novel c.1192-2A>G mutation.
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