Neuroimaging Findings in Alexander's Disease

Abstract

We present the findings from magnetic resonance imaging, computed tomographic scan, and single photon emission computed tomography of the brain in a 2-year-old girl with Alexander's disease. Computed tomographic scans showed prominent low-density white matter throughout the cerebral hemispheres. Magnetic resonance imaging showed increased T2 signal from the cerebral white matter but not the cerebellum or brain stem. Single photon emission computed tomography revealed diminished cerebral metabolism, particularly in the frontal regions, as compared with the cerebellum.

Defining and Categorizing Leukoencephalopathies of Unknown Origin: MR Imaging Approach

“…In two-thirds of the cases, the abnormal white matter had a slightly swollen appearance. The distribution and appearance of white matter abnormalities were compatible with the diagnosis of Alexander disease (22)(23)(24)(25)(26). Generally, the demonstration of Rosenthal fibers in brain tissue is considered a prerequisite to a definitive diagnosis.…”

“…In addition to the white matter changes, all patients had basal nuclei abnormalities, which were either changes in signal intensity and some swelling (Fig 4) or marked atrophy (Fig 5). To our knowledge, the involvement of the basal nuclei in Alexander disease is not described in the MR imaging literature (22)(23)(24)(25)(26), but from histopathologic analysis, it is known that the basal nuclei contain a relatively high volume of Rosenthal fibers (27)(28)(29). It is also known that in Alexander disease, the course of the white matter abnormalities is characterized by an increase in volume followed by cystic degeneration and a loss of volume (29,30).…”

Alexander's disease in a neurologically normal child: a case report

“…Russo et al proposed three forms of the disease: infantile, juvenile, and adult types [5]. The infantile form is characterized by loss of developmental milestones, seizures, progressive psychomotor retardation, development of quadriparesis, spasticity, and increasing macrocephaly [6,7]. Males are affected 2.5 times more frequently than females [8].…”

“…The mean age of onset is 7 years (range, 9 months to 14 years) and the average duration of survival after diagnosis is 12 years [8]. Adult-onset AD may mimic the juvenile form of AD or simulate multiple sclerosis; patients display a slowly progressive, protracted course that includes ataxia, bulbar signs, and paraparesis [7]. The mean age of onset is 45 years (range, 14-85 years) and the average duration of survival after diagnosis is 4 years [8].…”

Novel Mutations in Exon 6 of the GFAP Gene Affect a Highly Conserved IF Motif in the Rod Domain 2B and are Associated with Early Onset Infantile Alexander Disease

“…Since it was fi rst described in 1949 [1] , the diagnosis has been based on histopathological fi ndings in autopsy or brain biopsy, especially the demonstration of Rosenthal fi bres [9] . Typical fi ndings in cerebral imaging include leukencephalopathy with frontal predominance and degenerative changes of the basal ganglia [2,11,22,26] . Magnetic resonance criteria for the diagnosis of Alexander disease have been established [25] .…”