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Distinctive diffusion-weighted imaging features in late-onset genetic leukoencephalopathies

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Abstract

Genetic leukoencephalopathies are inherited disorders characterized by progressive white matter involvement. Although most are paediatric conditions, late-onset adult leukoencephalopathies are being increasingly recognized. Adult leukoencephalopathies may present as neurodegenerative diseases with cognitive decline and motor symptoms. Similar to their paediatric counterparts, different adult leukoencephalopathies often have distinctive MRI appearances. In particular, DWI has been recently shown to demonstrate specific patterns of persistent diffusion restriction in several adult-onset leukoencephalopathies. As such, DWI may provide important clues to the diagnosis of adult-onset leukoencephalopathy. The purpose of this review is to discuss characteristic DWI features in some late-onset leukoencephalopathies.

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Authors and Affiliations

  1. Department of Radiology, AZ Maria Middelares, Buitenring Sint-Denijs 30, 9000, Ghent, Belgium

    Laurens J. L. De Cocker

  2. Department of Radiology, University of North Carolina School of Medicine, Chapel Hill, NC, USA

    Mauricio Castillo

Authors
  1. Laurens J. L. De Cocker
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  2. Mauricio Castillo
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Correspondence to Laurens J. L. De Cocker.

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The authors declare that they have no conflict of interest.

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All procedures performed in the studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from the patient with NIID. The patients with ALSP and AARS2-L are deceased and no longer fell within the restrictions of the institutional review board.

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De Cocker, L.J.L., Castillo, M. Distinctive diffusion-weighted imaging features in late-onset genetic leukoencephalopathies. Neuroradiology 63, 153–156 (2021). https://doi.org/10.1007/s00234-020-02543-4

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  • DOI: https://doi.org/10.1007/s00234-020-02543-4

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