Atypical focal MRI lesions in a case of juvenile Alexander's disease.
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Atypical focal MRI lesions in a case of juvenile Alexander's disease. / Probst, Eva Neumaier; Hagel, Christian; Weisz, Vanja; Nagel, Sandra; Wittkugel, Oliver; Zeumer, Hermann; Kohlschütter, Alfried.
In: ANN NEUROL, Vol. 53, No. 1, 1, 2003, p. 118-120.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Atypical focal MRI lesions in a case of juvenile Alexander's disease.
AU - Probst, Eva Neumaier
AU - Hagel, Christian
AU - Weisz, Vanja
AU - Nagel, Sandra
AU - Wittkugel, Oliver
AU - Zeumer, Hermann
AU - Kohlschütter, Alfried
PY - 2003
Y1 - 2003
N2 - 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.
AB - 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.
M3 - SCORING: Zeitschriftenaufsatz
VL - 53
SP - 118
EP - 120
JO - ANN NEUROL
JF - ANN NEUROL
SN - 0364-5134
IS - 1
M1 - 1
ER -