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GTR Home > Conditions/Phenotypes > Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

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

Synonyms
LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, MILD; Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation; MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is characterized by slowly progressive cerebellar ataxia and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most individuals. The neurologic dysfunction involves the legs more than the arms. The tendon reflexes are retained. Deterioration of motor skills usually starts in childhood or adolescence, but occasionally not until adulthood. Dysarthria develops over time. Occasional findings include epilepsy; learning problems; cognitive decline; and reduced consciousness, neurologic deterioration, and fever following minor head trauma. Individuals with neonatal or early-infantile onset have a severe disease course often associated with early death. Those with childhood onset have slow progression with wheelchair dependence in the teens or twenties. Adult onset is associated with slow progression and mild impairment.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Marc Engelen
Truus EM Abbink
Gajja S Salomons
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Available tests

49 tests are in the database for this condition.

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Clinical tests (49 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ASPRS, LBSL, MT-ASPRS, mtAspRS, DARS2
    Summary: aspartyl-tRNA synthetase 2, mitochondrial

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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