Rinsho Shinkeigaku (Clinical Neurology)

Case Report

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

Yoshimasa Sueda, M.D.1), Tetsuya Takahashi, M.D.1), Kazuhide Ochi, M.D.1), Toshiho Ohtsuki, M.D.1), Michito Namekawa, M.D.2), Tatsuo Kohriyama, M.D.1), Yoshihisa Takiyama, M.D.3) and Masayasu Matsumoto, M.D.1)

1)Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical Sciences
2)Department of Neurology, Jichi Medical School
3)Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering University of Yamanashi

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.
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(CLINICA NEUROL, 49: 358|363, 2009)
key words: adult onset Alexander disease, glial fibrillary acidic protein, MRI

(Received: 16-Jan-09)