Can MR Imaging Diagnose Adult-Onset Alexander Disease?

References

1. ↵
   Li R, Johnson AB, Salomons G, et al. Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann Neurol 2005;57:310–26

   CrossRefPubMedWeb of Science
2. ↵
   van der Knaap MS, Naidu S, Breiter SN, et al. Alexander disease: diagnosis with MR imaging. AJNR Am J Neuroradiol 2001;22:541–52

   Abstract/FREE Full Text
3. ↵
   Wippold II FJ, Perry A, Lennerz J Neuropathology for the neuroradiologist: Rosenthal fibers. AJNR Am J Neuroradiol 2006;27:958–61

   Abstract/FREE Full Text
4. ↵
   Schwankhaus JD, Parisi JE, Gulledge WR, et al. Hereditary adult-onset Alexander's disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia. Neurology 1995;45:2266–71

   Abstract/FREE Full Text
5. ↵
   Messing A, Head MW, Galles K, et al. Fatal encephalopathy with astrocyte inclusions in GFAP transgenic mice. Am J Pathol 1998;152:391–98

   PubMedWeb of Science
6. ↵
   Brenner M, Johnson AB, Boespflug-Tanguy O, et al. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet 2001;27:117–20

   CrossRefPubMedWeb of Science
7. ↵
   Namekawa M, Takiyama Y, Aoki Y, et al. Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease. Ann Neurol 2002;52:779–85

   CrossRefPubMedWeb of Science
8. Okamoto Y, Mitsuyama H, Jonosono M, et al. Autosomal dominant palatal myoclonus and spinal cord atrophy. J Neurol Sci 2002;195:71–76

   CrossRefPubMedWeb of Science
9. Probst EN, Hagel C, Weisz V, et al. Atypical focal MRI lesions in a case of juvenile Alexander's disease. Ann Neurol 2003;53:118–20

   CrossRefPubMedWeb of Science
10. Stumpf E, Masson H, Duquette A, et al. Adult Alexander disease with autosomal dominant transmission. A distinct entity caused by mutation in the glial fibrillary acid protein gene. Arch Neurol 2003;60:1307–12

    CrossRefPubMedWeb of Science
11. Kinoshita T, Imaizumi T, Miura Y, et al. A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation. Neurosci Lett 2003;350:169–72

    CrossRefPubMedWeb of Science
12. Thyagarajan D, Chataway T, Li R, et al. Dominantly-inherited adult-onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene. Mov Disord 2004;19:1244–48

    CrossRefPubMedWeb of Science
13. Salvi F, Aoki Y, Della Nave R, et al. Adult Alexander's disease without leukoencephalopathy. Ann Neurol 2005;58:813–14

    CrossRefPubMedWeb of Science
14. ↵
    van der Knaap MS, Salomons GS, Li R, et al. Unusual variants of Alexander's disease. Ann Neurol 2005;57:327–38

    CrossRefPubMedWeb of Science
15. ↵
    van der Knaap MS, Ranesh V, Schiffmann R, et al. Alexander disease. Ventricular garlands and abnormalities of the medulla and spinal cord. Neurology 2006;66:494–98

    Abstract/FREE Full Text
16. Sreedharan J, Shaw E, Jarosz J, et al. Alexander disease with hypothermia, microcoria, and psychiatric and endocrine disturbances. Neurology 2007;68:1322–23

    FREE Full Text
17. ↵
    Romano S, Salvetti M, Ceccherini I, et al. Brainstem signs with progressing atrophy of the medulla oblongata and upper cervical spinal cord. Lancet Neurol 2007;6:562–70

    CrossRefPubMedWeb of Science
18. ↵
    Salmaggi A, Botturi A, Lamperti E, et al. A novel mutation in the GFAP gene in a familial adult onset Alexander disease. J Neurol 2007;254:1278–80

    CrossRefPubMedWeb of Science
19. ↵
    Howard KL, Hall DA, Moon M, et al. Adult-onset Alexander disease with progressive ataxia and palatal tremor. Mov Disord 2008;23:118–22

    CrossRefPubMedWeb of Science
20. ↵
    Balbi P, Seri M, Ceccherini I, et al. Adult-onset Alexander disease: Report on a family. J Neurol 2008;255:24–30

    CrossRefPubMedWeb of Science
21. ↵
    Caroli F, Biancheri R, Seri M, et al. GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease. Clin Genet 2007;72:427–33

    PubMedWeb of Science
22. ↵
    Li R, Johnson AB, van der Knaap MS, et al. Propensity for paternal inheritance of de novo mutations in Alexander disease. Hum Genet 2006;119:137–44

    CrossRefPubMedWeb of Science
23. ↵
    Shen WC, Chiu HH, Chow KC, et al. MR imaging findings of enteroviral encephalomyelitis: an outbreak in Taiwan. AJNR Am J Neuroradiol 1999;20:1889–95

    Abstract/FREE Full Text
24. ↵
    Lachenal F, Cotton F, Desmurs-Clavel H, et al. Neurological manifestations and neuroradiological presentation of Erdheim-Chester disease: report of 6 cases and systematic review of the literature. J Neurol 2006;253:1267–77

    CrossRefPubMedWeb of Science
25. ↵
    Koçer N, Islak C, Siva A, et al. CNS involvement in neuro-Behçet syndrome: an MR study. AJNR Am J Neuroradiol 1999;20:1015–24

    Abstract/FREE Full Text
26. ↵
    Farina L, Chiapparini L, Uziel G, et al. MRI findings in Leigh syndrome with COX deficiency and SURF-1 mutations. AJNR Am J Neuroradiol 2002;23:1095–100

    Abstract/FREE Full Text
27. ↵
    van der Knaap MS, van der Voorn P, Barkhof F, et al. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol 2003;53:252–58

    CrossRefPubMedWeb of Science
28. ↵
    Farina L, Bizzi A, Finocchiaro G, et al. MR imaging and proton MR spectroscopy in adult Krabbe disease. AJNR Am J Neuroradiol 2000;21:478–82
29. ↵
    Yoshida T, Tomozawa Y, Arisato T, et al. The functional alteration of mutant GFAP depends on the location of the domain: morphological and functional studies using astrocytoma-derived cells. J Hum Genet 2007;52:362–69

    CrossRefPubMedWeb of Science
30. ↵
    Quinlan RA, Brenner M, Goldman JE, et al. GFAP and its role in Alexander disease. Exp Cell Res 2007;313:2077–87

    CrossRefPubMedWeb of Science
31. ↵
    Takanashi JI, Sugita K, Tanabe Y, et al. Adolescent case of Alexander disease: MR imaging and MR spectroscopy. Pediatr Neurol 1998;18:67–70

    CrossRefPubMedWeb of Science
32. ↵
    Imamura A, Orii KE, Mizuno S, et al. MR imaging and 1H-MR spectroscopy in a case of juvenile Alexander disease. Brain Dev 2002;24:723–26

    CrossRefPubMedWeb of Science