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A novel mutation in the GFAP gene in a familial adult onset Alexander disease

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References

  1. Alexander WS (1949) Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant. Brain 72:373–81

    Article  CAS  PubMed  Google Scholar 

  2. Messing A, Goldman JE, Johnson AB, Brenner M (2001) Alexander disease: new insights from genetics. J Neuropathol Exp Neurol 60(6):563–573

    CAS  PubMed  Google Scholar 

  3. Moser HW (2005) Alexander disease: combined gene analysis and MRI clarify pathogenesis and extend phenotype. Ann Neurol 57:307–308

    Article  PubMed  Google Scholar 

  4. Li R. Johnson AB, Salomons G, et al. (2005) Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann Neurol 57:310–326

    Article  PubMed  Google Scholar 

  5. Namekawa M, Takiyama Y, Aoki Y, et al. (2002) Identification of GFAP gene mutation in hereditary adultonset Alexander’s disease. Ann Neurol 52:779–785

    Article  CAS  PubMed  Google Scholar 

  6. Stumpf E, Masson H, Duquette A, et al. (2003) Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene. Arch Neurol 60:1307–1312

    Article  PubMed  Google Scholar 

  7. Towfighi J, Young R, Sassani J, Ramer J, Horoupian DS (1983) Alexander’s disease: firther light- and electronmicroscopic observations. Acta Neuropathol. (Berl); 61:36–42

    Article  CAS  Google Scholar 

  8. Tomokane N, Iwaki T, Tateishi J, Iwaki A, Goldman JE (1991) Rosenthal fibers share epitopes with alpha B-crystallin, glial fibrillary acidic protein, and ubiquitin, but not woth vimentin. Immunoelectron microscopy with colloidal gold. Am J Pathol 138:875–85

    CAS  PubMed  Google Scholar 

  9. Rodriguez D, Gauthier F, Bertini E, et al. (2001) Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. Am J Hum Genet 69:1134–1140

    Article  CAS  PubMed  Google Scholar 

  10. van der Knaap MS, Naidu S, Breiter SN, et al. (2001) Alexander disease: diagnosis with MR imaging. Am J Neuroradiol 22:541–552

    CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Istituto Neurologico C. Besta, Via Celoria 11, 20133, Milano, Italy

    Andrea Salmaggi, Andrea Botturi, Elena Lamperti, Marina Grisoli & Amerigo Boiardi

  2. Ospedale Giovanni XXIII, Bari, Italy

    Rita Fischetto

  3. Istituto Giannina Gaslini, Genova, Italy

    Isabella Ceccherini & Francesco Caroli

Authors
  1. Andrea Salmaggi
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  2. Andrea Botturi
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  3. Elena Lamperti
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  4. Marina Grisoli
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  5. Rita Fischetto
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  6. Isabella Ceccherini
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  7. Francesco Caroli
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  8. Amerigo Boiardi
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Corresponding author

Correspondence to Andrea Salmaggi.

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Salmaggi, A., Botturi, A., Lamperti, E. et al. A novel mutation in the GFAP gene in a familial adult onset Alexander disease. J Neurol 254, 1278–1280 (2007). https://doi.org/10.1007/s00415-006-0361-2

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  • DOI: https://doi.org/10.1007/s00415-006-0361-2

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