LBSL
MCID: LKN026
MIFTS: 40
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Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)
Categories:
Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Leukoencephalopathy with Brainstem and Spinal Cord Involvement...
MalaCards integrated aliases for Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:
Name: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
57
42
73
71
Characteristics:Inheritance:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:
Autosomal recessive 57
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement-High Lactate Syndrome:
Autosomal recessive 58
Prevelance:
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement-High Lactate Syndrome:
<1/1000000 (Worldwide) 58
Age Of Onset:
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement-High Lactate Syndrome:
Childhood 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
slowly progressive variable severity onset between age 2 and 15 years one patient with episodic ataxia and later onset has been reported (as of june 2010) HPO:30
leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation:
Onset and clinical course variable expressivity slowly progressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases
ICD10:
32
Orphanet: 58
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MedlinePlus Genetics: 42 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.Most affected individuals begin to develop movement problems during childhood or adolescence. However, in some individuals, these problems do not develop until adulthood. People with LBSL have abnormal muscle stiffness (spasticity) and difficulty with coordinating movements (ataxia). In addition, affected individuals lose the ability to sense the position of their limbs or vibrations with their limbs. These movement and sensation problems affect the legs more than the arms, making walking difficult. Most affected individuals eventually require wheelchair assistance, sometimes as early as their teens, although the age varies.People with LBSL can have other signs and symptoms of the condition. Some affected individuals develop recurrent seizures (epilepsy), speech difficulties (dysarthria), learning problems, or mild deterioration of mental functioning. Some people with this disorder are particularly vulnerable to severe complications following minor head trauma, which may trigger a loss of consciousness, other reversible neurological problems, or fever.Distinct changes in the brains of people with LBSL can be seen using magnetic resonance imaging (MRI). These characteristic abnormalities typically involve particular parts of the white matter of the brain and specific regions (called tracts) within the brainstem and spinal cord, especially the pyramidal tract and the dorsal column. In addition, most affected individuals have a high level of a substance called lactate in the white matter of the brain, which is identified using another test called magnetic resonance spectroscopy (MRS). MalaCards based summary: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation, also known as lbsl, is related to cone-rod dystrophy 2 and leukodystrophy, and has symptoms including ataxia, tremor and muscle weakness. An important gene associated with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation is DARS2 (Aspartyl-TRNA Synthetase 2, Mitochondrial). Affiliated tissues include spinal cord, brain and cerebellum, and related phenotypes are abnormality of the dorsal column of the spinal cord and dysarthria GARD: 19 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 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 . 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) (Updated 08-Dec-2022) UniProtKB/Swiss-Prot: 73 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. Orphanet: 58 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.
GeneReviews:
NBK43417
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Diseases related to Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation via text searches within MalaCards or GeneCards Suite gene sharing:(show all 24)
Graphical network of the top 20 diseases related to Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:![]() |
Human phenotypes related to Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:58 30 (show top 50) (show all 58)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:611105 (Updated 08-Dec-2022)UMLS symptoms related to Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:ataxia; tremor; muscle weakness; muscle spasticity |
Interventional clinical trials:
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Organs/tissues related to Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:
MalaCards :
Spinal Cord,
Brain,
Cerebellum,
Skeletal Muscle,
Eye
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Articles related to Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:(show top 50) (show all 79)
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ClinVar genetic disease variations for Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:5 (show top 50) (show all 77)
UniProtKB/Swiss-Prot genetic disease variations for Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation:73 (show all 11)
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for disease gene expression data for Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation.
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