Adult onset Alexander disease with a novel variant (S398F) in the glial fibrillary acidic protein gene

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  • Sueda Yoshimasa
    Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical Sciences
  • Takahashi Tetsuya
    Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical Sciences
  • Ochi Kazuhide
    Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical Sciences
  • Ohtsuki Toshiho
    Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical Sciences
  • Namekawa Michito
    Department of Neurology, Jichi Medical School
  • Kohriyama Tatsuo
    Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical Sciences
  • Takiyama Yoshihisa
    Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering University of Yamanashi
  • Matsumoto Masayasu
    Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical Sciences

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Other Title
  • 新規ＧＦＡＰ遺伝子変異（Ｓ３９８Ｆ）をみとめた成人型Ａｌｅｘａｎｄｅｒ病の１例
  • 症例報告 新規GFAP遺伝子変異(S398F)をみとめた成人型Alexander病の1例
  • ショウレイ ホウコク シンキ GFAP イデンシ ヘンイ S398F オ ミトメタ セイジンガタ Alexanderビョウ ノ 1レイ

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Description

We report a 58-year-old woman with adult onset Alexander disease. At the age of 54 she noticed numbness in bilateral legs and at 57 she developed left sided spastic gait. Her walking difficulty was gradually worsened and followed by the development of weakness in left arm, dysarthria and dysphagia. Her mother and elder brother also had similar clinical presentations which suggested an autosomal dominant neurological disorder. With MRI findings showing localized atrophy of medulla oblongata and upper cervical cord with hyperintensities on T2-weighted image, diagnosis of adult onset Alexander disease was made. We performed genetic analysis and found novel variant (S398F) in the glial fibrillary acidic protein gene. In case of slowly progressive myelopathy with bulbar palsy of unknown origin, especially those with atrophy limited to medulla oblongata and upper cervical cord, adult onset Alexander disease should be taken into consideration.<br>

Journal

  • Rinsho Shinkeigaku

    Rinsho Shinkeigaku 49 (6), 358-363, 2009

    Societas Neurologica Japonica

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