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Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.
ORPHA:137898Classification level: Disorder
So far, 38 cases have been reported.
Onset occurs in early childhood. Epilepsy and cognitive decline have also been described.
The syndrome is caused by mutations in the DARS2 gene, which encodes mitochondrial aspartyl-tRNA synthetase.
MRI reveals inhomogeneous periventricular and deep white matter anomalies, with involvement of the cerebellar connections, the entire length of the pyramidal and sensory tracts.
Transmission is autosomal recessive.