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Related Experiment Video

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Quantitative MRI in hypomyelinating disorders: Correlation with motor handicap.

Marjan E Steenweg1, Nicole I Wolf1, Wessel N van Wieringen1

  • 1From the Department of Child Neurology (M.E.S., N.I.W., M.S.v.d.K.), VU University Medical Center, and Neuroscience Campus Amsterdam; Department of Clinical Epidemiology and Biostatistics (W.N.v.W.), VU University Medical Center; Department of Mathematics (W.N.v.W.), and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K., P.J.W.P.), VU University, Amsterdam; and Departments of Radiology (F.B.) and Physics and Medical Technology (P.J.W.P.), VU University Medical Center, Amsterdam, the Netherlands.

Neurology
|July 22, 2016
PubMed
Summary

Quantitative MRI measures correlate with motor handicap in hypomyelination. Radial diffusivity and N-acetylaspartate/creatine ratio are key indicators, suggesting myelin and axonal integrity impact motor function.

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Area of Science:

  • Neuroimaging
  • Neurology
  • Biophysics

Background:

  • Hypomyelination disorders affect myelin development, leading to significant motor impairments.
  • Quantitative magnetic resonance (MR) imaging offers sensitive biomarkers for white matter integrity.

Purpose of the Study:

  • To investigate the relationship between quantitative MR tissue parameters and motor handicap severity in patients with hypomyelination.
  • To identify specific MR measures that best explain motor deficits in this population.

Main Methods:

  • Prospective study of 28 hypomyelination patients and 61 controls.
  • Quantification of T2 relaxation time, magnetization transfer ratio, diffusion parameters (FA, MD, AD, RD), and brain metabolites.
  • Correlation analysis between MR measures and Gross Motor Function Classification System (GMFCS) scores.

Main Results:

  • Patients showed altered MR parameters including lower fractional anisotropy (FA), magnetization transfer ratio (MTR), and N-acetylaspartate/creatine (NAA/Cr) ratio, alongside higher diffusivities and T2 values compared to controls.
  • Tract-based spatial statistics revealed widespread white matter abnormalities in FA and radial diffusivity (RD).
  • RD and NAA/Cr ratio emerged as the strongest independent predictors of motor handicap (GMFCS).

Conclusions:

  • MR measures partially explain motor handicap severity in hypomyelination.
  • Both myelin deficiency and axonal integrity loss contribute to motor deficits.
  • Quantitative MR techniques can monitor therapeutic interventions aimed at promoting myelination.