title: Atypical focal MRI lesions in a case of juvenile Alexander's disease.
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.
authors.affiliation: Department of Neuroradiology, University Hospital Eppendorf, Hamburg, Germany. eneumaie@uke.uni-hamburg.de
authors.forename: Eva Neumaier
authors.initials: EN
authors.lastname: Probst
authors.forename: Christian
authors.initials: C
authors.lastname: Hagel
authors.forename: Vanja
authors.initials: V
authors.lastname: Weisz
authors.forename: Sandra
authors.initials: S
authors.lastname: Nagel
authors.forename: Oliver
authors.initials: O
authors.lastname: Wittkugel
authors.forename: Hermann
authors.initials: H
authors.lastname: Zeumer
authors.forename: Alfried
authors.initials: A
authors.lastname: Kohlschütter
mesh_terms: D038261:Alexander Disease / Q000235:genetics* / Q000473:pathology*; D001921:Brain / Q000473:pathology*; D002648:Child; D005091:Exons; D005260:Female; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation; D013116:Spinal Cord / Q000473:pathology
chemical_list: D005904:Glial Fibrillary Acidic Protein