Erschienen in:
Annals of Neurology, 53 (2003) 1, Seite 118-120
Sprache:
Englisch
DOI:
10.1002/ana.10382
ISSN:
1531-8249;
0364-5134
Entstehung:
Anmerkungen:
Beschreibung:
AbstractWe 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.