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ALS - Motor Neuron Disease: Mechanism and Development of New Therapies
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Published on: July 29, 2007

Early-onset LBSL: how severe does it get?

M E Steenweg1, L van Berge, C G M van Berkel

  • 1Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.

Neuropediatrics
|October 16, 2012
PubMed
Summary
This summary is machine-generated.

Severe variants of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) occur, often linked to DARS2 mutations. Specific MRI findings in brainstem tracts and cerebellar peduncles aid diagnosis.

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Area of Science:

  • Neurology
  • Neuroimaging
  • Genetics

Background:

  • Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is typically mild.
  • Severe LBSL variants with extensive MRI abnormalities were investigated.

Purpose of the Study:

  • To identify severe LBSL variants and their associated MRI findings.
  • To determine if DARS2 mutations correlate with specific clinical or imaging features.

Main Methods:

  • Retrospective review of ~3,000 leukoencephalopathy MRIs for specific white matter abnormalities.
  • Collection of clinical and laboratory data from affected patients.

Main Results:

  • Eleven patients met MRI criteria for severe LBSL; six had DARS2 mutations.
  • MRI findings, particularly involvement of specific brainstem tracts and globus pallidus, differentiated DARS2 mutation carriers.
  • Severe cases presented from neonatal period with death as early as 20 months.

Conclusions:

  • Confirms the existence of early infantile, severe LBSL, expanding its phenotypic spectrum.
  • Specific MRI abnormalities in brainstem tracts and cerebellar peduncles are key diagnostic indicators for severe LBSL.