Alexander disease: pathology

Evidence-based neurology checklist on alexander disease: pathology: Genetics and pathology This is an astrocytopathy It is caused by mutations in the GFAP gene The pathology shows Rosenthal fibers Types Acronym

Genetics and pathology

  • This is an astrocytopathy
  • It is caused by mutations in the GFAP gene
  • The pathology shows Rosenthal fibers

Types

Acronym

References

  1. Pareyson D, Fancellu R, Mariotti C, et al. Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. Brain 2008; 131:2321-2331.
  2. Namekawa M, Takiyama Y, Honda J, Shimakazi H, Sakoe K, Nakano I. Adult-onset Alexander disease with typical "tadpole" brainstorm atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature. BMC Neurology 2010; 10:21.
  3. Sosunov A, Olabarria M, Goldman JE. Alexander disease: an astrocytopathy that produces a leukodystrophy. Brain Pathol 2018; 28:388-398.
  4. Sreedharan J, Shaw CE, Jarosz J, Samuel M. Alexander disease with hypothermia, microcoria, and psychiatric and endocrine disturbance. Neurology 2007; 68:1322-1323.

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