• Brain & development · Feb 2010

    Review

    Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults.

    • Alfried Kohlschütter, Annette Bley, Knut Brockmann, Jutta Gärtner, Ingeborg Krägeloh-Mann, Arndt Rolfs, and Ludger Schöls.
    • Children's Hospital, University Medical Center Hamburg-Eppendorf, Germany. kohlschuetter@uke.uni-hamburg.de
    • Brain Dev. 2010 Feb 1;32(2):82-9.

    AbstractAbnormalities of CNS white matter are frequently detected in patients with neurological disorders when MRI studies are performed. Among the many causes of such abnormalities, a large group of rare genetic diseases poses considerable diagnostic problems. Here we present a compilation of genetic leukoencephalopathies to consider when one is confronted with white matter disease of possibly genetic origin. The table contains essentials such as age at onset of symptoms, clinical and MRI characteristics, basic defect, and useful diagnostic studies. The table serves as a diagnostic check list.2009 Elsevier B.V. All rights reserved.

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