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Different stages of white matter changes in the original HDLS family revealed by advanced MRI techniques

Christina Sundal1, Lars Jönsson, Maria Ljungberg

  • 1Department of Neurology, Sahlgrenska Academy, University of Gothenburg, Sweden; Department of Neurology, Mayo Clinic, Jacksonville, FL.

Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging
|June 12, 2013
PubMed
Abstract

Insights

This study tracked white matter changes in hereditary diffuse leukoencephalopathy with spheroids (HDLS) using MRI. Findings suggest primary axonal degeneration, aiding in HDLS diagnosis.

Area of Science:

  • Neuroimaging
  • Neuropathology
  • Leukodystrophy

Background:

  • The temporal progression of white matter (WM) abnormalities in hereditary diffuse leukoencephalopathy with spheroids (HDLS) remains poorly understood.
  • Investigating WM changes in HDLS using advanced MRI techniques is crucial for understanding disease evolution.

Purpose of the Study:

  • To investigate the temporal evolution of white matter changes in HDLS.
  • To characterize WM changes using diffusion weighted/tensor imaging (DWI/DTI) and MR Spectroscopy (MRS).

Main Methods:

  • Prospective follow-up of a newly diagnosed HDLS patient from the original Swedish family.
  • Serial MRI examinations including DWI/DTI and MRS over 16 months.
  • Analysis of DTI eigenvalues and diffusion patterns to assess myelin and axonal integrity.

Main Results:

  • DTI revealed early myelin and axonal disturbances in normal-appearing white matter (NAWM).
  • A progressively expanding rim of decreased diffusion was observed in WM, indicating complete axonal and myelin destruction.
  • MRS findings suggested axonal destruction in NAWM, supporting primary axonal degeneration.

Conclusions:

  • HDLS progression involves three temporal stages characterized by a centrifugally progressing rim of lesions.
  • MRS-indicated axonal disturbances in NAWM support primary axonal degeneration in HDLS.
  • These imaging findings can assist in the differential diagnosis of HDLS.
Keywords:
DTIMRIMRSautosomal dominant inheritancehereditary leukoencephalopathy with spheroids (HDLS)white matter lesions

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