Brain & development
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Brain & development · Feb 2010
ReviewLeukodystrophies and other genetic metabolic leukoencephalopathies in children and adults.
Abnormalities 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. ⋯ 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.