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).
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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."
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