Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)

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OMIM 57 611105 Orphanet 59 ORPHA137898 ICD10 via Orphanet 34 E75.2 UMLS via Orphanet 74 C1970180

MedGen 42 C1970180 KEGG 37 H00871 SNOMED-CT via HPO 69 258211005 563001 85102008 221360009 397790002 8011004 405946002 26544005 26079004 86854008 203598005 385522000 55033002 57048009 7890003 88565003 22811006 74035001 128208007 60703000 246586009 366575004 386806002 more UMLS 73 C1970180

NIH Rare Diseases : ⁵³ Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a rare neurological disease characterized by slowly progressive cerebellar ataxia (lack of control of the movements) and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most patients. The disease involves the legs more than the arms. It usually starts in childhood or adolescence, but in some cases not until adulthood. Difficulty speaking develops over time. Other symptoms may include: epilepsy; learning problems; cognitive decline; and reduced consciousness, neurologic deterioration, and fever following minor head trauma. Many affected individuals become wheelchair dependent in their teens or twenties. The earlier the onset the more severe the disease is. The diagnosis is made in persons who had the characteristic abnormalities observed on brain and spinal cord MRI scans and with the genetic test identifiying the DARS2 gene alteration (mutation). There is still no cure and treatment is supportive and includes physical therapy and rehabilitation to improve movement function, and the following as needed: antiepileptic drugs, special education and speech therapy.

MalaCards based summary : Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation, also known as leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, is related to spastic paraparesis, and has symptoms including ataxia, muscle weakness and tremor. An important gene associated with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation is DARS2 (Aspartyl-TRNA Synthetase 2, Mitochondrial), and among its related pathways/superpathways is Aminoacyl-tRNA biosynthesis. Affiliated tissues include spinal cord, brain and testes, and related phenotypes are nystagmus and ataxia

Genetics Home Reference : ²⁵ Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (commonly referred to as LBSL) is a progressive disorder that affects the brain and spinal cord. Leukoencephalopathy refers to abnormalities in the white matter of the brain, which is tissue containing nerve cell fibers (axons) that transmit nerve impulses.

OMIM : ⁵⁷ Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is defined on the basis of a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy (Scheper et al., 2007). Affected individuals develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline. (611105)

UniProtKB/Swiss-Prot : ⁷⁵ Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: Autosomal recessive disease and is defined on the basis of a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy. Affected individuals develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline.

GeneReviews: NBK43417

Clinical features from OMIM:

611105

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