Partial duplication of DHH causes minifascicular neuropathy.

Autor: Sato, Naoko Saito^1,2, Maekawa, Risa², Ishiura, Hiroyuki¹ ishiura-tky@umin.org, Mitsui, Jun¹, Naruse, Hiroya^1,2, Tokushige, Shin‐ichi¹, Sugie, Kazuma³, Tate, Genshu⁴, Shimizu, Jun¹, Goto, Jun^1,5, Tsuji, Shoji¹, Shiio, Yasushi²

Publikováno v: Annals of Clinical & Translational Neurology. Jun2017, Vol. 4 Issue 6, p415-421. 7p.

Atypical parkinsonism caused by Pro105Leu mutation of prion protein: A broad clinical spectrum.

Autor: Mano KK; Department of Neurology (K.K.M., T.M., J.M., H.I., S.-i.T., Y. Takahashi, N.S.S., F.K.N., Y.I., Y.N., Y. Terao, J.S., M.H., S.T., J.G.), Graduate School of Medicine, The University of Tokyo; Shonai Amarume Hospital (Y. Takahashi); Department of Neurology (Y.U.), Toranomon Hospital; Department of Neurology (G. Oyama), Juntendo University; Department of Neurology (G. Ogawa), Teikyo University; and Department of Computational Biology and Medical Sciences (J.Y., K.D., S.M.), Graduate School of Frontier Sciences, The University of Tokyo. Y. Takahashi is currently affiliated with the Department of Neurology, National Center of Psychiatry and Neurology. Y.I. is currently affiliated with the Department of Neurology, Kyorin University., Matsukawa T; Department of Neurology (K.K.M., T.M., J.M., H.I., S.-i.T., Y. Takahashi, N.S.S., F.K.N., Y.I., Y.N., Y. Terao, J.S., M.H., S.T., J.G.), Graduate School of Medicine, The University of Tokyo; Shonai Amarume Hospital (Y. Takahashi); Department of Neurology (Y.U.), Toranomon Hospital; Department of Neurology (G. Oyama), Juntendo University; Department of Neurology (G. Ogawa), Teikyo University; and Department of Computational Biology and Medical Sciences (J.Y., K.D., S.M.), Graduate School of Frontier Sciences, The University of Tokyo. Y. Takahashi is currently affiliated with the Department of Neurology, National Center of Psychiatry and Neurology. Y.I. is currently affiliated with the Department of Neurology, Kyorin University., Mitsui J; Department of Neurology (K.K.M., T.M., J.M., H.I., S.-i.T., Y. Takahashi, N.S.S., F.K.N., Y.I., Y.N., Y. Terao, J.S., M.H., S.T., J.G.), Graduate School of Medicine, The University of Tokyo; Shonai Amarume Hospital (Y. Takahashi); Department of Neurology (Y.U.), Toranomon Hospital; Department of Neurology (G. Oyama), Juntendo University; Department of Neurology (G. Ogawa), Teikyo University; and Department of Computational Biology and Medical Sciences (J.Y., K.D., S.M.), Graduate School of Frontier Sciences, The University of Tokyo. Y. Takahashi is currently affiliated with the Department of Neurology, National Center of Psychiatry and Neurology. Y.I. is currently affiliated with the Department of Neurology, Kyorin University., Ishiura H; Department of Neurology (K.K.M., T.M., J.M., H.I., S.-i.T., Y. Takahashi, N.S.S., F.K.N., Y.I., Y.N., Y. Terao, J.S., M.H., S.T., J.G.), Graduate School of Medicine, The University of Tokyo; Shonai Amarume Hospital (Y. Takahashi); Department of Neurology (Y.U.), Toranomon Hospital; Department of Neurology (G. Oyama), Juntendo University; Department of Neurology (G. Ogawa), Teikyo University; and Department of Computational Biology and Medical Sciences (J.Y., K.D., S.M.), Graduate School of Frontier Sciences, The University of Tokyo. Y. Takahashi is currently affiliated with the Department of Neurology, National Center of Psychiatry and Neurology. Y.I. is currently affiliated with the Department of Neurology, Kyorin University., Tokushige S; Department of Neurology (K.K.M., T.M., J.M., H.I., S.-i.T., Y. Takahashi, N.S.S., F.K.N., Y.I., Y.N., Y. Terao, J.S., M.H., S.T., J.G.), Graduate School of Medicine, The University of Tokyo; Shonai Amarume Hospital (Y. Takahashi); Department of Neurology (Y.U.), Toranomon Hospital; Department of Neurology (G. Oyama), Juntendo University; Department of Neurology (G. Ogawa), Teikyo University; and Department of Computational Biology and Medical Sciences (J.Y., K.D., S.M.), Graduate School of Frontier Sciences, The University of Tokyo. Y. Takahashi is currently affiliated with the Department of Neurology, National Center of Psychiatry and Neurology. Y.I. is currently affiliated with the Department of Neurology, Kyorin University., Takahashi Y; Department of Neurology (K.K.M., T.M., J.M., H.I., S.-i.T., Y. Takahashi, N.S.S., F.K.N., Y.I., Y.N., Y. Terao, J.S., M.H., S.T., J.G.), Graduate School of Medicine, The University of Tokyo; Shonai Amarume Hospital (Y. Takahashi); Department of Neurology (Y.U.), Toranomon Hospital; Department of Neurology (G. Oyama), Juntendo University; Department of Neurology (G. Ogawa), Teikyo University; and Department of Computational Biology and Medical Sciences (J.Y., K.D., S.M.), Graduate School of Frontier Sciences, The University of Tokyo. Y. Takahashi is currently affiliated with the Department of Neurology, National Center of Psychiatry and Neurology. Y.I. is currently affiliated with the Department of Neurology, Kyorin University., Sato NS; Department of Neurology (K.K.M., T.M., J.M., H.I., S.-i.T., Y. Takahashi, N.S.S., F.K.N., Y.I., Y.N., Y. Terao, J.S., M.H., S.T., J.G.), Graduate School of Medicine, The University of Tokyo; Shonai Amarume Hospital (Y. Takahashi); Department of Neurology (Y.U.), Toranomon Hospital; Department of Neurology (G. Oyama), Juntendo University; Department of Neurology (G. Ogawa), Teikyo University; and Department of Computational Biology and Medical Sciences (J.Y., K.D., S.M.), Graduate School of Frontier Sciences, The University of Tokyo. Y. Takahashi is currently affiliated with the Department of Neurology, National Center of Psychiatry and Neurology. Y.I. is currently affiliated with the Department of Neurology, Kyorin University., Nakamoto FK; Department of Neurology (K.K.M., T.M., J.M., H.I., S.-i.T., Y. Takahashi, N.S.S., F.K.N., Y.I., Y.N., Y. Terao, J.S., M.H., S.T., J.G.), Graduate School of Medicine, The University of Tokyo; Shonai Amarume Hospital (Y. Takahashi); Department of Neurology (Y.U.), Toranomon Hospital; Department of Neurology (G. Oyama), Juntendo University; Department of Neurology (G. Ogawa), Teikyo University; and Department of Computational Biology and Medical Sciences (J.Y., K.D., S.M.), Graduate School of Frontier Sciences, The University of Tokyo. Y. Takahashi is currently affiliated with the Department of Neurology, National Center of Psychiatry and Neurology. Y.I. is currently affiliated with the Department of Neurology, Kyorin University., Ichikawa Y; Department of Neurology (K.K.M., T.M., J.M., H.I., S.-i.T., Y. Takahashi, N.S.S., F.K.N., Y.I., Y.N., Y. Terao, J.S., M.H., S.T., J.G.), Graduate School of Medicine, The University of Tokyo; Shonai Amarume Hospital (Y. Takahashi); Department of Neurology (Y.U.), Toranomon Hospital; Department of Neurology (G. Oyama), Juntendo University; Department of Neurology (G. Ogawa), Teikyo University; and Department of Computational Biology and Medical Sciences (J.Y., K.D., S.M.), Graduate School of Frontier Sciences, The University of Tokyo. Y. Takahashi is currently affiliated with the Department of Neurology, National Center of Psychiatry and Neurology. Y.I. is currently affiliated with the Department of Neurology, Kyorin University., Nagashima Y; Department of Neurology (K.K.M., T.M., J.M., H.I., S.-i.T., Y. Takahashi, N.S.S., F.K.N., Y.I., Y.N., Y. Terao, J.S., M.H., S.T., J.G.), Graduate School of Medicine, The University of Tokyo; Shonai Amarume Hospital (Y. Takahashi); Department of Neurology (Y.U.), Toranomon Hospital; Department of Neurology (G. Oyama), Juntendo University; Department of Neurology (G. Ogawa), Teikyo University; and Department of Computational Biology and Medical Sciences (J.Y., K.D., S.M.), Graduate School of Frontier Sciences, The University of Tokyo. Y. Takahashi is currently affiliated with the Department of Neurology, National Center of Psychiatry and Neurology. Y.I. is currently affiliated with the Department of Neurology, Kyorin University., Terao Y; Department of Neurology (K.K.M., T.M., J.M., H.I., S.-i.T., Y. Takahashi, N.S.S., F.K.N., Y.I., Y.N., Y. Terao, J.S., M.H., S.T., J.G.), Graduate School of Medicine, The University of Tokyo; Shonai Amarume Hospital (Y. Takahashi); Department of Neurology (Y.U.), Toranomon Hospital; Department of Neurology (G. Oyama), Juntendo University; Department of Neurology (G. Ogawa), Teikyo University; and Department of Computational Biology and Medical Sciences (J.Y., K.D., S.M.), Graduate School of Frontier Sciences, The University of Tokyo. Y. Takahashi is currently affiliated with the Department of Neurology, National Center of Psychiatry and Neurology. Y.I. is currently affiliated with the Department of Neurology, Kyorin University., Shimizu J; Department of Neurology (K.K.M., T.M., J.M., H.I., S.-i.T., Y. Takahashi, N.S.S., F.K.N., Y.I., Y.N., Y. Terao, J.S., M.H., S.T., J.G.), Graduate School of Medicine, The University of Tokyo; Shonai Amarume Hospital (Y. Takahashi); Department of Neurology (Y.U.), Toranomon Hospital; Department of Neurology (G. Oyama), Juntendo University; Department of Neurology (G. Ogawa), Teikyo University; and Department of Computational Biology and Medical Sciences (J.Y., K.D., S.M.), Graduate School of Frontier Sciences, The University of Tokyo. Y. Takahashi is currently affiliated with the Department of Neurology, National Center of Psychiatry and Neurology. Y.I. is currently affiliated with the Department of Neurology, Kyorin University., Hamada M; Department of Neurology (K.K.M., T.M., J.M., H.I., S.-i.T., Y. Takahashi, N.S.S., F.K.N., Y.I., Y.N., Y. Terao, J.S., M.H., S.T., J.G.), Graduate School of Medicine, The University of Tokyo; Shonai Amarume Hospital (Y. Takahashi); Department of Neurology (Y.U.), Toranomon Hospital; Department of Neurology (G. Oyama), Juntendo University; Department of Neurology (G. Ogawa), Teikyo University; and Department of Computational Biology and Medical Sciences (J.Y., K.D., S.M.), Graduate School of Frontier Sciences, The University of Tokyo. Y. Takahashi is currently affiliated with the Department of Neurology, National Center of Psychiatry and Neurology. Y.I. is currently affiliated with the Department of Neurology, Kyorin University., Uesaka Y; Department of Neurology (K.K.M., T.M., J.M., H.I., S.-i.T., Y. Takahashi, N.S.S., F.K.N., Y.I., Y.N., Y. Terao, J.S., M.H., S.T., J.G.), Graduate School of Medicine, The University of Tokyo; Shonai Amarume Hospital (Y. Takahashi); Department of Neurology (Y.U.), Toranomon Hospital; Department of Neurology (G. Oyama), Juntendo University; Department of Neurology (G. Ogawa), Teikyo University; and Department of Computational Biology and Medical Sciences (J.Y., K.D., S.M.), Graduate School of Frontier Sciences, The University of Tokyo. Y. Takahashi is currently affiliated with the Department of Neurology, National Center of Psychiatry and Neurology. Y.I. is currently affiliated with the Department of Neurology, Kyorin University., Oyama G; Department of Neurology (K.K.M., T.M., J.M., H.I., S.-i.T., Y. Takahashi, N.S.S., F.K.N., Y.I., Y.N., Y. Terao, J.S., M.H., S.T., J.G.), Graduate School of Medicine, The University of Tokyo; Shonai Amarume Hospital (Y. Takahashi); Department of Neurology (Y.U.), Toranomon Hospital; Department of Neurology (G. Oyama), Juntendo University; Department of Neurology (G. Ogawa), Teikyo University; and Department of Computational Biology and Medical Sciences (J.Y., K.D., S.M.), Graduate School of Frontier Sciences, The University of Tokyo. Y. Takahashi is currently affiliated with the Department of Neurology, National Center of Psychiatry and Neurology. Y.I. is currently affiliated with the Department of Neurology, Kyorin University., Ogawa G; Department of Neurology (K.K.M., T.M., J.M., H.I., S.-i.T., Y. Takahashi, N.S.S., F.K.N., Y.I., Y.N., Y. Terao, J.S., M.H., S.T., J.G.), Graduate School of Medicine, The University of Tokyo; Shonai Amarume Hospital (Y. Takahashi); Department of Neurology (Y.U.), Toranomon Hospital; Department of Neurology (G. Oyama), Juntendo University; Department of Neurology (G. Ogawa), Teikyo University; and Department of Computational Biology and Medical Sciences (J.Y., K.D., S.M.), Graduate School of Frontier Sciences, The University of Tokyo. Y. Takahashi is currently affiliated with the Department of Neurology, National Center of Psychiatry and Neurology. Y.I. is currently affiliated with the Department of Neurology, Kyorin University., Yoshimura J; Department of Neurology (K.K.M., T.M., J.M., H.I., S.-i.T., Y. Takahashi, N.S.S., F.K.N., Y.I., Y.N., Y. Terao, J.S., M.H., S.T., J.G.), Graduate School of Medicine, The University of Tokyo; Shonai Amarume Hospital (Y. Takahashi); Department of Neurology (Y.U.), Toranomon Hospital; Department of Neurology (G. Oyama), Juntendo University; Department of Neurology (G. Ogawa), Teikyo University; and Department of Computational Biology and Medical Sciences (J.Y., K.D., S.M.), Graduate School of Frontier Sciences, The University of Tokyo. Y. Takahashi is currently affiliated with the Department of Neurology, National Center of Psychiatry and Neurology. Y.I. is currently affiliated with the Department of Neurology, Kyorin University., Doi K; Department of Neurology (K.K.M., T.M., J.M., H.I., S.-i.T., Y. Takahashi, N.S.S., F.K.N., Y.I., Y.N., Y. Terao, J.S., M.H., S.T., J.G.), Graduate School of Medicine, The University of Tokyo; Shonai Amarume Hospital (Y. Takahashi); Department of Neurology (Y.U.), Toranomon Hospital; Department of Neurology (G. Oyama), Juntendo University; Department of Neurology (G. Ogawa), Teikyo University; and Department of Computational Biology and Medical Sciences (J.Y., K.D., S.M.), Graduate School of Frontier Sciences, The University of Tokyo. Y. Takahashi is currently affiliated with the Department of Neurology, National Center of Psychiatry and Neurology. Y.I. is currently affiliated with the Department of Neurology, Kyorin University., Morishita S; Department of Neurology (K.K.M., T.M., J.M., H.I., S.-i.T., Y. Takahashi, N.S.S., F.K.N., Y.I., Y.N., Y. Terao, J.S., M.H., S.T., J.G.), Graduate School of Medicine, The University of Tokyo; Shonai Amarume Hospital (Y. Takahashi); Department of Neurology (Y.U.), Toranomon Hospital; Department of Neurology (G. Oyama), Juntendo University; Department of Neurology (G. Ogawa), Teikyo University; and Department of Computational Biology and Medical Sciences (J.Y., K.D., S.M.), Graduate School of Frontier Sciences, The University of Tokyo. Y. Takahashi is currently affiliated with the Department of Neurology, National Center of Psychiatry and Neurology. Y.I. is currently affiliated with the Department of Neurology, Kyorin University., Tsuji S; Department of Neurology (K.K.M., T.M., J.M., H.I., S.-i.T., Y. Takahashi, N.S.S., F.K.N., Y.I., Y.N., Y. Terao, J.S., M.H., S.T., J.G.), Graduate School of Medicine, The University of Tokyo; Shonai Amarume Hospital (Y. Takahashi); Department of Neurology (Y.U.), Toranomon Hospital; Department of Neurology (G. Oyama), Juntendo University; Department of Neurology (G. Ogawa), Teikyo University; and Department of Computational Biology and Medical Sciences (J.Y., K.D., S.M.), Graduate School of Frontier Sciences, The University of Tokyo. Y. Takahashi is currently affiliated with the Department of Neurology, National Center of Psychiatry and Neurology. Y.I. is currently affiliated with the Department of Neurology, Kyorin University., Goto J; Department of Neurology (K.K.M., T.M., J.M., H.I., S.-i.T., Y. Takahashi, N.S.S., F.K.N., Y.I., Y.N., Y. Terao, J.S., M.H., S.T., J.G.), Graduate School of Medicine, The University of Tokyo; Shonai Amarume Hospital (Y. Takahashi); Department of Neurology (Y.U.), Toranomon Hospital; Department of Neurology (G. Oyama), Juntendo University; Department of Neurology (G. Ogawa), Teikyo University; and Department of Computational Biology and Medical Sciences (J.Y., K.D., S.M.), Graduate School of Frontier Sciences, The University of Tokyo. Y. Takahashi is currently affiliated with the Department of Neurology, National Center of Psychiatry and Neurology. Y.I. is currently affiliated with the Department of Neurology, Kyorin University.

Publikováno v: Neurology. Genetics [Neurol Genet] 2016 Jan 07; Vol. 2 (1), pp. e48. Date of Electronic Publication: 2016 Jan 07 (Print Publication: 2016).