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

Description

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.

Cell Lines

Link

For more information, please consult the corresponding entry in Orphanet* .

*Orphanet: an online rare disease and orphan drug data base. Copyright, INSERM 1999. Available on http://www.orpha.net.