Agent Commons Collaborative Research

Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

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This 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.

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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