FTDP-17 associated with the MAPT P301L mutation and severe brainstem pathology

被引:0
|
作者
Gener, M. A. H. [1 ]
Murrell, J. R. [1 ]
Oblak, A. L. [1 ]
Ghetti, B. [1 ]
机构
[1] Indiana Univ Sch Med, Dept Pathol & Lab Med, Div Neuropathol, Indianapolis, IN 46202 USA
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
P20-03
引用
收藏
页码:70 / 70
页数:1
相关论文
共 50 条
  • [41] A case of frontotemporal dementia with tau P301L mutation in the Far East
    Ryota Tanaka
    Tomonori Kobayashi
    Yumiko Motoi
    Midori Anno
    Yoshikuni Mizuno
    Hideo Mori
    Journal of Neurology, 2000, 247 : 705 - 707
  • [42] A unique common ancestor introduced P301L mutation in MAPT gene in frontotemporal dementia patients from Barcelona (Baix Llobregat, Spain)
    Palencia-Madrid, Leire
    Sanchez-Valle, Raquel
    Fernandez de Retana, Ierai
    Borrego, Sergi
    Grau-Rivera, Oriol
    Rene, Ramon
    Hernandez, Isabel
    Almenar, Consuelo
    Rossi, Giacomina
    Caroppo, Paola
    Redaelli, Veronica
    Le Ber, Isabelle
    Camuzat, Agnes
    Brice, Alexis
    Antonell, Anna
    Balasa, Mircea
    Gelpi, Ellen
    Llado, Albert
    de Pancorbo, Marian M.
    NEUROBIOLOGY OF AGING, 2019, 84 : 236.e9 - 236.e15
  • [43] Novel, Long Sought Splice Site Mutation at Exon 10/Intron 10 Boundary of MAPT Stem Loop Structure in a Family with FTDP-17
    McCarthy, Allan
    Lonergan, Roisin
    O'Dowd, Sean
    Maginnis, Brian
    Spillantini, Maria Grazia
    Lynch, Timothy
    NEUROLOGY, 2013, 80
  • [44] Riluzole rescues glutamate alterations, cognitive deficits, and tau pathology associated with P301L tau expression
    Hunsberger, Holly C.
    Weitzner, Daniel S.
    Rudy, Carolyn C.
    Hickman, James E.
    Libell, Eric M.
    Speer, Rebecca R.
    Gerhardt, Greg A.
    Reed, Miranda N.
    JOURNAL OF NEUROCHEMISTRY, 2015, 135 (02) : 381 - 394
  • [45] The role of MAPT gene in Chinese dementia patients: a P301L pedigree study and brief literature review
    He, Shuang
    Chen, Shuai
    Xia, Ming-Rong
    Sun, Zhi-Kun
    Huang, Yue
    Zhang, Jie-Wen
    NEUROPSYCHIATRIC DISEASE AND TREATMENT, 2018, 14 : 1627 - 1633
  • [46] Atypical and slowly progressive FTDP-17 caused by MAPT p. R406W mutations - similarities to AD and PSP
    Ygland, E.
    van Westen, D.
    Englund, E.
    Rademakers, R.
    Wszolek, Z.
    Nilsson, K.
    Nilsson, C.
    Hansson, O.
    Gustafson, L.
    Puschmann, A.
    MOVEMENT DISORDERS, 2017, 32
  • [47] FTDP-17 with Pick body-like inclusions associated with a novel tau mutation, p.E372G Introduction
    Kovacs, Gabor G.
    BRAIN PATHOLOGY, 2017, 27 (05) : 627 - 628
  • [48] Mitochondrial hyperpolarization in iPSC-derived neurons from patients of FTDP-17 with 10+16 MAPT mutation leads to oxidative stress and neurodegeneration
    Esteras, Noemi
    Rohrer, Jonathan D.
    Hardy, John
    Wray, Selina
    Abramov, Andrey Y.
    REDOX BIOLOGY, 2017, 12 : 410 - 422
  • [49] Characterization of a novel transgenic rat carrying human tau with mutation P301L
    Korhonen, P.
    van Groen, T.
    Thornell, A.
    Kyrylenko, S.
    Soininen, M. -L.
    Ojala, J.
    Peltomaa, E.
    Tanila, H.
    Salminen, A.
    Mandelkow, E. M.
    Soininen, H.
    NEUROBIOLOGY OF AGING, 2011, 32 (12) : 2314 - 2315
  • [50] FTDP-17 with MAPT Exon 13 Mutations: Comparison of Neuropathologic Features of Gly389Arg to a Novel Mutation, Glu372Gly
    Kouri, Naomi
    Parisi, Joseph
    Petersen, Ronald
    Baker, Matthew
    Rademakers, Rosa
    Dickson, Dennis
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2012, 71 (06): : 582 - 582