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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.
A summary on this disease is available in Deutsch (2008) Español (2008) Français (2008) Italiano (2008) Nederlands (2008) Português (2008)
- Clinical practice guidelines
- Deutsch (2022) - AWMF
Disease review articles
- Review article
- English (2011) - Expert Rev Neurother
- Clinical genetics review
- English (2021) - GeneReviews
: produced/endorsed by FSMR(s)
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.