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AJNR - American Journal of Neuroradiology

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Discrepancy Between Neuroimaging Findings and Clinical Phenotype in Alexander Disease

A. Dinopoulos^a, J.R. Gorospe^c, J.C. Egelhoff^b, K.M. Cecil^b, P. Nicolaidou^d, P. Morehart^a and T. DeGrauw^a

^a Department of Neurology, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio
^b Department of Radiology, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio
^c Center for Genetic Medicine, Children’s National Medical Center, Washington, DC
^d Department of Pediatrics, Attiko University Hospital, Athens, Greece

View larger version (140K): [in a new window]   Fig 1. The first row (A) shows axial T2- and T1-weighted images, not obtained in our institution, at the age of 3.5 months. The rows B–D represent MR imaging studies (axial T2-weighted, axial FLAIR, axial T1-weighted precontrast, axial T1-weighted postcontrast) and proton MR spectroscopy studies (long-echo TE, 288; with the voxel placed on the left frontal white matter) performed at our institution at the ages of 8 months, 19 months, and 39 months, respectively. White matter signal-intensity abnormality (high T2-weighted, FLAIR, and low T1-weighted) with frontal predominance involving the arcuate fibers and the external and the extreme capsule is apparent in all studies. The white matter has a swollen appearance in all studies except the last one (D). Basal ganglia symmetric signal-intensity abnormality with patchy appearance involving mainly the caudate and putamen (striatum) is apparent in the first 3 studies. The signal intensity is significantly less in the last study (D). Increasing size of the frontal cavitations is apparent with the subsequent studies. A periventricular rim of high intensity is seen on the T1-weighted images of the studies B–D. Contrast enhancement is less apparent in the last study (D). Spectroscopy results are shown on Table 2.

View larger version (32K): [in a new window]   Fig 2. Sequencing chromograms show the C to T base change corresponding to nucleotide 1087 (1087ct) that was detected on the patient’s GFAP alleles. Both parents tested negative for the presence of the 1087ct mutation.

View larger version (10K): [in a new window]   Fig 3. The figure depicts the location of each of the mild AD–associated mutations in GFAP, in relation to the protein domain structure of intermediate filaments. The protein has a central rod domain that is subdivided into 4 a-helical subdomains separated by nonhelical areas.