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Ann Neurol. 2003 Jan;53(1):118-20.

Atypical focal MRI lesions in a case of juvenile Alexander's disease.

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1
Department of Neuroradiology, University Hospital Eppendorf, Hamburg, Germany. eneumaie@uke.uni-hamburg.de

Abstract

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 fibrillary acidic protein cDNA, a finding previously reported in cases of infantile Alexander's disease.

PMID:
12509855
DOI:
10.1002/ana.10382
[Indexed for MEDLINE]
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