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Atypical focal MRI lesions in a case of juvenile Alexander's disease
Author(s) -
Probst Eva Neumaier,
Hagel Christian,
Weisz Vanja,
Nagel Sandra,
Wittkugel Oliver,
Zeumer Hermann,
Kohlschütter Alfried
Publication year - 2003
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10382
Subject(s) - juvenile , medicine , magnetic resonance imaging , pathology , disease , radiology , biology , genetics
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.