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. Nakada; S. Tsuji

doi:10.1212/01.WNL.0000123117.11264.0E

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 journal › Article › peer-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 language	English
Pages (from-to)	1601-1603
Number of pages	3
Journal	Neurology
Volume	62
Issue number	9
DOIs	https://doi.org/10.1212/01.WNL.0000123117.11264.0E
Publication status	Published - 2004 May 11
Externally published	Yes

ASJC Scopus subject areas

Clinical Neurology

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Ohtake, H., Shimohata, T., Terajima, K., Kimura, T., Jo, R., Kaseda, R., Iizuka, O., Takano, M., Akaiwa, Y., Goto, H., Kobayashi, H., Sugai, T., Muratake, T., Hosoki, T., Shioiri, T., Okamoto, K., Onodera, O., Tanaka, K., Someya, T., ... Tsuji, S. (2004). Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5. Neurology, 62(9), 1601-1603. https://doi.org/10.1212/01.WNL.0000123117.11264.0E

Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5. / Ohtake, H.; Shimohata, T.; Terajima, K.; Kimura, T.; Jo, R.; Kaseda, R.; Iizuka, O.; Takano, M.; Akaiwa, Y.; Goto, H.; Kobayashi, H.; Sugai, T.; Muratake, T.; Hosoki, T.; Shioiri, T.; Okamoto, K.; Onodera, O.; Tanaka, K.; Someya, T.; Nakada, T.; Tsuji, S.

In: Neurology, Vol. 62, No. 9, 11.05.2004, p. 1601-1603.

Research output: Contribution to journal › Article › peer-review

Ohtake, H, Shimohata, T, Terajima, K, Kimura, T, Jo, R, Kaseda, R, Iizuka, O, Takano, M, Akaiwa, Y, Goto, H, Kobayashi, H, Sugai, T, Muratake, T, Hosoki, T, Shioiri, T, Okamoto, K, Onodera, O, Tanaka, K, Someya, T, Nakada, T & Tsuji, S 2004, 'Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5', Neurology, vol. 62, no. 9, pp. 1601-1603. https://doi.org/10.1212/01.WNL.0000123117.11264.0E

Ohtake, H. ; Shimohata, T. ; Terajima, K. ; Kimura, T. ; Jo, R. ; Kaseda, R. ; Iizuka, O. ; Takano, M. ; Akaiwa, Y. ; Goto, H. ; Kobayashi, H. ; Sugai, T. ; Muratake, T. ; Hosoki, T. ; Shioiri, T. ; Okamoto, K. ; Onodera, O. ; Tanaka, K. ; Someya, T. ; Nakada, T. ; Tsuji, S. / Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5. In: Neurology. 2004 ; Vol. 62, No. 9. pp. 1601-1603.

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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.",

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

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AU - Ohtake, H.

AU - Shimohata, T.

AU - Terajima, K.

AU - Kimura, T.

AU - Jo, R.

AU - Kaseda, R.

AU - Iizuka, O.

AU - Takano, M.

AU - Akaiwa, Y.

AU - Goto, H.

AU - Kobayashi, H.

AU - Sugai, T.

AU - Muratake, T.

AU - Hosoki, T.

AU - Shioiri, T.

AU - Okamoto, K.

AU - Onodera, O.

AU - Tanaka, K.

AU - Someya, T.

AU - Nakada, T.

AU - Tsuji, S.

PY - 2004/5/11

Y1 - 2004/5/11

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AB - 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.

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

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