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

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

Research output: Contribution to journalArticlepeer-review

49 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1601-1603
Number of pages3
JournalNeurology
Volume62
Issue number9
DOIs
Publication statusPublished - 2004 May 11
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology

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