Machine Learning and Multiparametric Brain MRI to Differentiate Hereditary Diffuse Leukodystrophy with Spheroids from Multiple Sclerosis.

Journal: Journal of neuroimaging : official journal of the American Society of Neuroimaging
Published Date:

Abstract

BACKGROUND AND PURPOSE: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) and multiple sclerosis (MS) are demyelinating and neurodegenerative disorders that can be hard to distinguish clinically and radiologically. HDLS is a rare disorder compared to MS, which has led to occurrent misdiagnosis of HDLS as MS. That is problematic since their prognosis and treatment differ. Both disorders are investigated by MRI, which could help to identify patients with high probability of having HDLS, which could guide targeted genetic testing to confirm the HDLS diagnosis.

Authors

  • Gabriel Mangeat
    NeuroPoly Lab, Institute of Biomedical Engineering, Polytechnique Montreal, Montreal, Quebec, Canada.
  • Russell Ouellette
    Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Boston, USA.
  • Maxime Wabartha
    NeuroPoly Lab, Institute of Biomedical Engineering, Polytechnique Montreal, Montreal, QC, Canada.
  • Benjamin De Leener
    NeuroPoly Lab, Institute of Biomedical Engineering, Polytechnique Montreal, Montreal, QC, Canada.
  • Michael Platten
    Neurology Clinic, Heidelberg University Hospital, Heidelberg, Germany; German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany; Department of Neurology, Mannheim Medical Center, University of Heidelberg, Mannheim, Germany.
  • Virginija Danylaité Karrenbauer
    Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
  • Marcel Warntjes
    Center for Medical Imaging Science and Visualization, CMIV, Linköping, Sweden.
  • Nikola Stikov
    NeuroPoly Lab, Institute of Biomedical Engineering, Polytechnique Montreal, Montreal, Quebec, Canada.
  • Caterina Mainero
    Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Boston, USA.
  • Julien Cohen-Adad
    NeuroPoly Lab, Institute of Biomedical Engineering, Polytechnique Montreal, Montreal, QC, Canada; Functional Neuroimaging Unit, CRIUGM, Université de Montréal, Montreal, QC, Canada.
  • Tobias Granberg
    Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Boston, USA.