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

Probst Eva Neumaier | Zendy; Hagel Christian | Zendy; Weisz Vanja | Zendy; Nagel Sandra | Zendy; Wittkugel Oliver | Zendy; Zeumer Hermann | Zendy; Kohlschütter Alfried | Zendy

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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.

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