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Alexander Disease
Surjith Vattoth, MD, FRCR; Anna Illner, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Alexander disease (AD)
              • Synonyms

                • Fibrinoid leukodystrophy
              • Definitions

                • Rare leukoencephalopathy characterized by Rosenthal fibers (RFs), intracytoplasmic astrocytic inclusions
                • 3 clinical forms: Infantile (most common), juvenile, adult
                • Caused by dominant mutations in gene encoding GFAP

              IMAGING

              • General Features

                • CT Findings

                  • MR Findings

                    • Nuclear Medicine Findings

                      • Imaging Recommendations

                        DIFFERENTIAL DIAGNOSIS

                          PATHOLOGY

                          • General Features

                            • Gross Pathologic & Surgical Features

                              • Microscopic Features

                                CLINICAL ISSUES

                                • Presentation

                                  • Demographics

                                    • Natural History & Prognosis

                                      • Treatment

                                        DIAGNOSTIC CHECKLIST

                                        • Consider

                                          • Image Interpretation Pearls

                                            Selected References

                                            1. Gómez-Pinedo U et al: Myelin changes in Alexander disease. Neurologia. 33(8):526-33, 2018
                                            2. Sosunov AA et al: The origin of Rosenthal fibers and their contributions to astrocyte pathology in Alexander disease. Acta Neuropathol Commun. 5(1):27, 2017
                                            3. Tavasoli A et al: Alexander Disease. J Child Neurol. 32(2):184-7, 2017
                                            4. Brenner M et al: A new mutation in GFAP widens the spectrum of Alexander disease. Eur J Hum Genet. 23(1):1-2, 2015
                                            5. Graff-Radford J et al: Neuroimaging and clinical features in type II (late-onset) Alexander disease. Neurology. 82(1):49-56, 2014
                                            6. Walker AK et al: Astrocytic TDP-43 pathology in Alexander disease. J Neurosci. 34(19):6448-58, 2014
                                            7. Biancheri R et al: Magnetic resonance imaging "tigroid pattern" in Alexander disease. Neuropediatrics. 44(3):174-6, 2013
                                            8. Ramesh K et al: Infantile-onset Alexander disease: a genetically proven case with mild clinical course in a 6-year-old Indian boy. J Child Neurol. 28(3):396-8, 2013
                                            9. Messing A et al: Alexander disease. J Neurosci. 32(15):5017-23, 2012
                                            10. Messing A et al: Archetypal and new families with Alexander disease and novel mutations in GFAP. Arch Neurol. 2012 Feb;69(2):208-14. Epub 2011 Oct 10. Erratum in: Arch Neurol. 69(5):643, 2012
                                            11. Shiihara T et al: Serial MRI changes in a patient with infantile Alexander disease and prolonged survival. Brain Dev. 33(7):604-7, 2011
                                            12. Mignot C et al: Tumor-like enlargement of the optic chiasm in an infant with Alexander disease. Brain Dev. 31(3):244-7, 2009
                                            13. Balbi P et al: Adult-onset Alexander disease : report on a family. J Neurol. 255(1):24-30, 2008
                                            14. Delnooz CC et al: Alexander disease causing hereditary late-onset ataxia with only minimal white matter changes: a report of two sibs. Mov Disord. 23(11):1613-5, 2008
                                            15. Farina L et al: Can MR imaging diagnose adult-onset Alexander disease? AJNR Am J Neuroradiol. 29(6):1190-6, 2008
                                            16. Hirayama T et al: Adult-onset Alexander disease with palatal myoclonus and intraventricular tumour. Eur J Neurol. 15(2):e16-7, 2008
                                            17. Matarese CA et al: Magnetic resonance imaging findings in Alexander disease. Pediatr Neurol. 38(5):373-4, 2008
                                            18. Murakami N et al: Novel deletion mutation in GFAP gene in an infantile form of Alexander disease. Pediatr Neurol. 38(1):50-2, 2008
                                            19. Pareyson D et al: Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. Brain. 131(Pt 9):2321-31, 2008
                                            20. Tang G et al: Adaptive autophagy in Alexander disease-affected astrocytes. Autophagy. 4(5):701-3, 2008
                                            21. Vázquez E et al: Neonatal Alexander disease: MR imaging prenatal diagnosis. AJNR Am J Neuroradiol. 29(10):1973-5, 2008
                                            22. Hinttala R et al: Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene. Acta Neuropathol. 114(5):543-5, 2007
                                            23. Huttner HB et al: Acute onset of fatal vegetative symptoms: unusual presentation of adult Alexander disease. Eur J Neurol. 14(11):1251-5, 2007
                                            24. Ohnari K et al: An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein. J Neurol. 254(10):1390-4, 2007
                                            25. Quinlan RA et al: GFAP and its role in Alexander disease. Exp Cell Res. 313(10):2077-87, 2007
                                            26. Salmaggi A et al: A novel mutation in the GFAP gene in a familial adult onset Alexander disease. J Neurol. 254(9):1278-80, 2007
                                            27. Cáceres-Marzal C et al: Early mitochondrial dysfunction in an infant with Alexander disease. Pediatr Neurol. 35(4):293-6, 2006
                                            28. Dinopoulos A et al: Discrepancy between neuroimaging findings and clinical phenotype in Alexander disease. AJNR Am J Neuroradiol. 27(10):2088-92, 2006
                                            29. Mignot C et al: Alexander disease: putative mechanisms of an astrocytic encephalopathy. Cell Mol Life Sci. 61(3):369-85, 2004
                                            30. Brockmann K et al: Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. J Neurol. 250(3):300-6, 2003
                                            31. Gordon N: Alexander disease. Eur J Paediatr Neurol. 7(6):395-9, 2003
                                            32. Johnson AB et al: Alexander's disease: clinical, pathologic, and genetic features. J Child Neurol. 18(9):625-32, 2003
                                            33. Messing A et al: Alexander disease: new insights from genetics. J Neuropathol Exp Neurol. 60(6):563-73, 2001
                                            34. Rodriguez D et al: Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. Am J Hum Genet. 69(5):1134-40, 2001
                                            35. van der Knaap MS et al: Alexander disease: diagnosis with MR imaging. AJNR Am J Neuroradiol. 22(3):541-52, 2001
                                            36. Springer S et al: Alexander disease--classification revisited and isolation of a neonatal form. Neuropediatrics. 31(2):86-92, 2000
                                            Related Anatomy
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                                            Related Differential Diagnoses
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                                            References
                                            Tables

                                            Tables

                                            KEY FACTS

                                            • Terminology

                                              • Imaging

                                                • Top Differential Diagnoses

                                                  • Pathology

                                                    • Clinical Issues

                                                      • Diagnostic Checklist

                                                        TERMINOLOGY

                                                        • Abbreviations

                                                          • Alexander disease (AD)
                                                        • Synonyms

                                                          • Fibrinoid leukodystrophy
                                                        • Definitions

                                                          • Rare leukoencephalopathy characterized by Rosenthal fibers (RFs), intracytoplasmic astrocytic inclusions
                                                          • 3 clinical forms: Infantile (most common), juvenile, adult
                                                          • Caused by dominant mutations in gene encoding GFAP

                                                        IMAGING

                                                        • General Features

                                                          • CT Findings

                                                            • MR Findings

                                                              • Nuclear Medicine Findings

                                                                • Imaging Recommendations

                                                                  DIFFERENTIAL DIAGNOSIS

                                                                    PATHOLOGY

                                                                    • General Features

                                                                      • Gross Pathologic & Surgical Features

                                                                        • Microscopic Features

                                                                          CLINICAL ISSUES

                                                                          • Presentation

                                                                            • Demographics

                                                                              • Natural History & Prognosis

                                                                                • Treatment

                                                                                  DIAGNOSTIC CHECKLIST

                                                                                  • Consider

                                                                                    • Image Interpretation Pearls

                                                                                      Selected References

                                                                                      1. Gómez-Pinedo U et al: Myelin changes in Alexander disease. Neurologia. 33(8):526-33, 2018
                                                                                      2. Sosunov AA et al: The origin of Rosenthal fibers and their contributions to astrocyte pathology in Alexander disease. Acta Neuropathol Commun. 5(1):27, 2017
                                                                                      3. Tavasoli A et al: Alexander Disease. J Child Neurol. 32(2):184-7, 2017
                                                                                      4. Brenner M et al: A new mutation in GFAP widens the spectrum of Alexander disease. Eur J Hum Genet. 23(1):1-2, 2015
                                                                                      5. Graff-Radford J et al: Neuroimaging and clinical features in type II (late-onset) Alexander disease. Neurology. 82(1):49-56, 2014
                                                                                      6. Walker AK et al: Astrocytic TDP-43 pathology in Alexander disease. J Neurosci. 34(19):6448-58, 2014
                                                                                      7. Biancheri R et al: Magnetic resonance imaging "tigroid pattern" in Alexander disease. Neuropediatrics. 44(3):174-6, 2013
                                                                                      8. Ramesh K et al: Infantile-onset Alexander disease: a genetically proven case with mild clinical course in a 6-year-old Indian boy. J Child Neurol. 28(3):396-8, 2013
                                                                                      9. Messing A et al: Alexander disease. J Neurosci. 32(15):5017-23, 2012
                                                                                      10. Messing A et al: Archetypal and new families with Alexander disease and novel mutations in GFAP. Arch Neurol. 2012 Feb;69(2):208-14. Epub 2011 Oct 10. Erratum in: Arch Neurol. 69(5):643, 2012
                                                                                      11. Shiihara T et al: Serial MRI changes in a patient with infantile Alexander disease and prolonged survival. Brain Dev. 33(7):604-7, 2011
                                                                                      12. Mignot C et al: Tumor-like enlargement of the optic chiasm in an infant with Alexander disease. Brain Dev. 31(3):244-7, 2009
                                                                                      13. Balbi P et al: Adult-onset Alexander disease : report on a family. J Neurol. 255(1):24-30, 2008
                                                                                      14. Delnooz CC et al: Alexander disease causing hereditary late-onset ataxia with only minimal white matter changes: a report of two sibs. Mov Disord. 23(11):1613-5, 2008
                                                                                      15. Farina L et al: Can MR imaging diagnose adult-onset Alexander disease? AJNR Am J Neuroradiol. 29(6):1190-6, 2008
                                                                                      16. Hirayama T et al: Adult-onset Alexander disease with palatal myoclonus and intraventricular tumour. Eur J Neurol. 15(2):e16-7, 2008
                                                                                      17. Matarese CA et al: Magnetic resonance imaging findings in Alexander disease. Pediatr Neurol. 38(5):373-4, 2008
                                                                                      18. Murakami N et al: Novel deletion mutation in GFAP gene in an infantile form of Alexander disease. Pediatr Neurol. 38(1):50-2, 2008
                                                                                      19. Pareyson D et al: Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. Brain. 131(Pt 9):2321-31, 2008
                                                                                      20. Tang G et al: Adaptive autophagy in Alexander disease-affected astrocytes. Autophagy. 4(5):701-3, 2008
                                                                                      21. Vázquez E et al: Neonatal Alexander disease: MR imaging prenatal diagnosis. AJNR Am J Neuroradiol. 29(10):1973-5, 2008
                                                                                      22. Hinttala R et al: Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene. Acta Neuropathol. 114(5):543-5, 2007
                                                                                      23. Huttner HB et al: Acute onset of fatal vegetative symptoms: unusual presentation of adult Alexander disease. Eur J Neurol. 14(11):1251-5, 2007
                                                                                      24. Ohnari K et al: An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein. J Neurol. 254(10):1390-4, 2007
                                                                                      25. Quinlan RA et al: GFAP and its role in Alexander disease. Exp Cell Res. 313(10):2077-87, 2007
                                                                                      26. Salmaggi A et al: A novel mutation in the GFAP gene in a familial adult onset Alexander disease. J Neurol. 254(9):1278-80, 2007
                                                                                      27. Cáceres-Marzal C et al: Early mitochondrial dysfunction in an infant with Alexander disease. Pediatr Neurol. 35(4):293-6, 2006
                                                                                      28. Dinopoulos A et al: Discrepancy between neuroimaging findings and clinical phenotype in Alexander disease. AJNR Am J Neuroradiol. 27(10):2088-92, 2006
                                                                                      29. Mignot C et al: Alexander disease: putative mechanisms of an astrocytic encephalopathy. Cell Mol Life Sci. 61(3):369-85, 2004
                                                                                      30. Brockmann K et al: Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. J Neurol. 250(3):300-6, 2003
                                                                                      31. Gordon N: Alexander disease. Eur J Paediatr Neurol. 7(6):395-9, 2003
                                                                                      32. Johnson AB et al: Alexander's disease: clinical, pathologic, and genetic features. J Child Neurol. 18(9):625-32, 2003
                                                                                      33. Messing A et al: Alexander disease: new insights from genetics. J Neuropathol Exp Neurol. 60(6):563-73, 2001
                                                                                      34. Rodriguez D et al: Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. Am J Hum Genet. 69(5):1134-40, 2001
                                                                                      35. van der Knaap MS et al: Alexander disease: diagnosis with MR imaging. AJNR Am J Neuroradiol. 22(3):541-52, 2001
                                                                                      36. Springer S et al: Alexander disease--classification revisited and isolation of a neonatal form. Neuropediatrics. 31(2):86-92, 2000