Article
Discrepancy between neuroimaging findings and clinical phenotype in Alexander disease.
AJNR. American journal of neuroradiology - 1 Jan 2000
Dinopoulos A, Gorospe J R, Egelhoff J C, Cecil K M, Nicolaidou P, Morehart P, DeGrauw T
Abstract excerpt
We present a case of infantile-onset Alexander disease (AD) with a novel glial fibrillary acidic protein mutation but without clinical evidence of neurologic deterioration. Brain MRI studies showed typical AD findings and increasing size of frontal cavitations. Serial proton MR spectroscopy demon...
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