Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Alternate names

Leukoencephalopathy with brain stem and spinal cord involvement - high lactate; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation; MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY; Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome

Definition

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.

Onset

It usually starts in childhood or adolescence, but in some cases not until adulthood. Difficulty speaking develops over time.

Cause

This condition is caused by homozygous or compound heterozygous mutation in the gene encoding mitochondrial aspartyl-tRNA synthetase (DARS2; 610956) on chromosome 1q25.

Inheritance

Autosomal recessive inheritance, a 25% chance

It is inherited in an autosomal recessive manner.

Signs and symptoms

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.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Abnormality of the dorsal column of the spinal cord

30%-79% of people have these symptoms

• Babinski sign
• Clumsiness
• Difficulty walking(Difficulty in walking)
• Distal muscle weakness(Weakness of outermost muscles)
• Dysarthria(Difficulty articulating speech)
• Dysmyelinating leukodystrophy
• Progressive cerebellar ataxia
• Progressive inability to walk
• Progressive spasticity
• Spastic ataxia
• Tremor
• Unsteady gait(Unsteady walk)

5%-29% of people have these symptoms

• Cognitive impairment(Abnormality of cognition)
• Hyporeflexia(Decreased reflex response)
• Impaired distal proprioception
• Impaired vibration sensation in the lower limbs(Decreased lower limb vibratory sense)
• Impaired visuospatial constructive cognition
• Increased CSF lactate
• Increased serum lactate
• Leg muscle stiffness
• Mental deterioration(Cognitive decline)
• Motor delay
• Peripheral axonal neuropathy
• Poor fine motor coordination

1%-4% of people have these symptoms

• Absent speech(Absent speech development)
• Cerebellar atrophy(Degeneration of cerebellum)
• Cerebral atrophy(Degeneration of cerebrum)
• Diplopia(Double vision)
• Flexion contracture(Flexed joint that cannot be straightened)
• Generalized limb muscle atrophy(Generalized muscle wasting)
• Hearing impairment(Deafness)
• Hypoplasia of the corpus callosum(Underdevelopment of part of brain called corpus callosum)
• Impaired pursuit initiation and maintenance
• Intellectual disability(Mental deficiency)
• Muscular hypotonia(Low or weak muscle tone)
• Nystagmus(Involuntary, rapid, rhythmic eye movements)
• Optic atrophy
• Polyneuropathy(Peripheral nerve disease)
• Ptosis(Drooping upper eyelid)
• Seizure
• Slow saccadic eye movements(Slow eye movements)
• Slurred speech
• Spastic/hyperactive bladder
• Truncal ataxia(Instability or lack of coordination of central trunk muscles)

Diagnosis

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).

Treatment

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.

NIH genetic and rare disease info

• NIH info on Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is a rare disease.

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Resources
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