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

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OMIM® 57 611105 ICD10 via Orphanet 32 E88.8 UMLS via Orphanet 72 C1970180 Orphanet 58 ORPHA137898

MedGen 40 C1970180 SNOMED-CT via HPO 69 103276001 11934000 128208007 128613002 15188001 203598005 204043002 221360009 22631008 22811006 228156007 228158008 230233000 246545002 246586009 247578003 24982008 249942005 250067008 26079004 26544005 278849000 289195008 302226006 313307000 343087000 366575004 385522000 386806002 394616008 397790002 398151007 398152000 404686001 405946002 418143002 42345000 42658009 52522001 55033002 563001 57048009 60703000 7006003 74035001 76976005 7890003 8011004 84757009 85102008 86854008 88565003 91138005 91175000 95646004 95828007 more UMLS 71 C1970180

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

Clinical features from OMIM®:

611105 (Updated 08-Dec-2022)

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