A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease

Yoko Aoki, Kazuhiro Haginoya, Mitsutoshi Munakata, Hiroyuki Yokoyama, Toshiyuki Nishio, Noriko Togashi, Tatsuo Ito, Yoichi Suzuki, Shigeo Kure, Kazuie Iinuma, Michael Brenner, Yoichi Matsubara

Research output: Contribution to journalArticlepeer-review

30 Citations (Scopus)


Alexander disease is a rare, progressive, leukoencephalopathy whose hallmark is the widespread accumulation of Rosenthal fibers. The most common form affects infants and young children, and is characterized by progressive failure of central myelination, usually leading to death before adulthood. Definitive diagnosis of Alexander disease has required biopsy or autopsy to demonstrate the presence of Rosenthal fibers. However, missense mutations in the coding region of the glial fibrillary acidic protein (GFAP) gene have recently been associated with a high percentage of pathologically proven cases. Here we report that a 10-year-old Japanese patient who showed clinical signs of Alexander disease is heterozygous for a C to T transition in which predicts a novel A244V amino acid substitution in the conserved 2A α-helix domain of GFAP. The nucleotide change was not found in 65 normal individuals (130 alleles). These results provide further support for a causative role for GFAP mutations in Alexander disease, and suggest DNA sequencing as an alternative diagnostic to biopsy.

Original languageEnglish
Pages (from-to)71-74
Number of pages4
JournalNeuroscience Letters
Issue number2
Publication statusPublished - 2001 Oct 19


  • Alexander disease
  • Glial fibrillary acidic protein
  • Leukoencephalopathy
  • Mutations
  • Positron emission tomography
  • Single photon emission computerized tomography

ASJC Scopus subject areas

  • Neuroscience(all)


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