ACR Codes: 1.6
Alexander's disease (AD), also called "Rosenthal Fiber Encephalopathy" and "fibrinoid leukodystrophy" is an uncommon neurodegenerative disease. Both childhood and adult types have been described. It is caused by a mutation in the GFAP gene (Glial Fibrillary Acidic Protein). PMID: 16505300http://www.neurology.org/cgi/content/abstract/66/4/494
Early presentation (first weeks of age), macrocephaly, failure to achieve milestones, progressive spastic quadriparesis, intellectual failure, early death (infancy, childhood), low density in frontal white matter => extends posteriorly and into internal capsule, enhancement of tips of frontal horns, prolonged T1 and T2 in frontal regions => progresses posteriorly to parietal and the internal and external capsules, frankly cystic changes occur late with marked atrophy of the corpus callosum.
The adult-onset disease (AOAD) also affects the medulla oblongata and the upper cervical spinal cord.
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Can MRI diagnose adult-onset Alexander Disease?
"Atrophy and changes in signal intensity in the medulla oblongata and upper cervical spinal cord were present in 11 of 11 cases and were the diagnostic features." PMID: 18388212 http://www.ajnr.org/cgi/content/abstract/29/6/1190
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Disease Topic 250 
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