Article
Atypical focal MRI lesions in a case of juvenile Alexander's disease.
Annals of neurology - 1 Jan 2003
Probst Eva Neumaier, Hagel Christian, Weisz Vanja, Nagel Sandra, Wittkugel Oliver, Zeumer Hermann, Kohlschütter Alfried
Abstract excerpt
We present a juvenile case of Alexander's disease with atypical focal magnetic resonance imaging-detected lesions and elevated levels of lactate in cerebrospinal fluid. The diagnosis was based on the neuropathological finding of a diffuse accumulation of Rosenthal fibers within the brain and the spinal cord. The diagnosis was confirmed by detection of a mutation in exon 1 at nucleotide position 249 of glial...
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