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NEUROLOGY 2004;62:1601-1603
© 2004 American Academy of Neurology
Brief Communications

Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5

H. Ohtake, MD, T. Shimohata, MD PhD, K. Terajima, MD PhD, T. Kimura, MD PhD, R. Jo, MD, R. Kaseda, MD, O. Iizuka, MD PhD, M. Takano, MD, Y. Akaiwa, MD, H. Goto, MD, H. Kobayashi, MD PhD, T. Sugai, MD, T. Muratake, MD PhD, T. Hosoki, MD PhD, T. Shioiri, MD PhD, K. Okamoto, MD PhD, O. Onodera, MD PhD, K. Tanaka, MD PhD, T. Someya, MD PhD, T. Nakada, MD PhD and S. Tsuji, MD PhD

From the Department of Neurology (Drs. Ohtake, Shimohata, Terajima, Jo, Kaseda, Iizuka, Takano, Akaiwa, Kobayashi, Onodera, and Tanaka) and Center for Integrated Human Brain Science (Drs. Kimura and Nakada), Brain Research Institute, and Departments of Psychiatry (Drs. Sugai, Muratake, Hosoki, Shioiri, and Someya) and Radiology (Dr. Okamoto), Faculty of Medicine, Niigata University, Japan; Department of Neurology (Dr. Goto), Kawatana National Hospital, Nagasaki, Japan; and Department of Neurology (Dr. Tsuji), University of Tokyo, Graduate School of Medicine, Japan.

Address correspondence and reprint requests to Dr. Tsuji, Department of Neurology, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan; e-mail: tsuji{at}m.u-tokyo.ac.jp

We report of a woman aged 52 years born to consanguineous parents and seeking treatment for progressive dementia and delusion. Neurologic examination revealed dementia and emotional instability, indifference, and confabulation. There was also mild spasticity of the bilateral lower limbs. MRI revealed diffuse white matter hyperintensity on T2-weighted images accompanied by hypointense areas on fluid-attenuated inversion recovery images. A homozygous missense mutation was identified in EIF2B5.

Received August 14, 2003. Accepted in final form February 2, 2004.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the May 11 issue to find the title link for this article.

See also pages 1464, 1503, 1509, and 1598




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