PRESENILIN1 G217R MUTATION LINKED TO ALZHEIMER DISEASE WITH COTTON WOOL PLAQUES

被引：8

作者：

Norton, J. B. ^{[1
,4
]}

Cairns, N. J. ^{[2
,3
]}

Chakraverty, S. ^{[1
,4
]}

Wang, J. ^{[1
,4
]}

Levitch, D. ^{[1
,4
]}

Galvin, J. E. ^{[1
,2
,4
]}

Goate, A. ^{[1
,2
,4
]}

机构：

[1] Washington Univ, Sch Med, Dept Psychiat, St Louis, MO 63110 USA

[2] Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA

[3] Washington Univ, Sch Med, Dept Pathol & Immunol, St Louis, MO 63110 USA

[4] Washington Univ, Sch Med, Alzheimer Dis Res Ctr, St Louis, MO 63110 USA

来源：

NEUROLOGY | 2009年 / 73卷 / 06期

关键词：

D O I：

10.1212/WNL.0b013e3181b163ba

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：480 / 482

页数：6

共 50 条

[1] A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis
Shrimpton, Antony E.
Schelper, Robert L.
Linke, Reinhold P.
Hardy, John
Crook, Richard
Dickson, Dennis W.
Ishizawa, Takashi
Davis, Richard L.
NEUROPATHOLOGY, 2007, 27 (03) : 228 - 232
[2] Young adult-onset, very slowly progressive cognitive decline with spastic paraparesis in Alzheimer's disease with cotton wool plaques due to a novel presenilin1 G417S mutation
Miki, Tomoko
Yokota, Osamu
Haraguchi, Takashi
Ikeuchi, Takeshi
Zhu, Bin
Takenoshita, Shintaro
Terada, Seishi
Yamada, Norihito
ACTA NEUROPATHOLOGICA COMMUNICATIONS, 2019, 7 : 19
[3] Young adult-onset, very slowly progressive cognitive decline with spastic paraparesis in Alzheimer’s disease with cotton wool plaques due to a novel presenilin1 G417S mutation
Tomoko Miki
Osamu Yokota
Takashi Haraguchi
Takeshi Ikeuchi
Bin Zhu
Shintaro Takenoshita
Seishi Terada
Norihito Yamada
Acta Neuropathologica Communications, 7
[4] A Presenilin-1 Mutation Identified in Familial Alzheimer Disease with Cotton Wool Plaques Causes a Nearly Complete Loss of γ-Secretase Activity
Heilig, Elizabeth A.
Xia, Weiming
Shen, Jie
Kelleher, Raymond J., III
JOURNAL OF BIOLOGICAL CHEMISTRY, 2010, 285 (29) : 22350 - 22359
[5] Another presenilin 1 mutation (Y115C) causes early onset Alzheimer's disease with cotton wool plaques
Godbolt, AK
Bodi, I
Collinge, JC
Janssen, JC
Rossor, M
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2005, 31 (02) : 241 - 241
[6] iPSC Modeling of Presenilin1 Mutation in Alzheimer's Disease with Cerebellar Ataxia
Li, Ling
Roh, Jee Hoon
Chang, Eun Hyuk
Lee, Yoonkyung
Lee, Suji
Kim, Minchul
Koh, Wonyoung
Chang, Jong Wook
Kim, Hee Jin
Nakanishi, Mahito
Barker, Roger A.
Na, Duk L.
Song, Jihwan
EXPERIMENTAL NEUROBIOLOGY, 2018, 27 (05) : 350 - 364
[7] Cotton wool plaques in familial Alzheimer disease with Presenilin 1 mutations.: Clinical and neuropathologic heterogeneity.
Ghetti, B
Piccardo, P
Miravalle, L
Vidal, R
Cochran, EI
Towfighi, J
Boyer, P
Murrell, JR
Farlow, MR
Koto, A
Takao, M
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2004, 63 (05): : 550 - 550
[8] Novel insights into presenilin 1 mutation associated with a distinctive dementia phenotype and cotton wool plaques
Yamagata, Hidehisa D.
Akatsu, Hiroyasu
Fukuoka, Tomoya
Wake, Akito
Watanabe, Ichiro
Kimura, Naoto
Miki, Tetsuro
Kamada, Kazuo
Miyazaki, Tatsuhiko
Yamamoto, Takayuki
Hori, Akira
Sato, Naoyuki
Mimuro, Maya
Yoshida, Mari
Hashizume, Yoshio
NEUROLOGICAL SCIENCES, 2024, 45 (10) : 4829 - 4835
[9] Histologic and biochemical characterization of cotton-wool plaques in familial Alzheimer's disease due to presenilin 1 mutations
Kobalka, Peter
Sigurdson, Christina
Soldau, Katrin
Gaffney, Patricia
Kurt, Tim
Liu, Jun
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2015, 74 (06): : 625 - 625
[10] A novel mutation (G217D) in the Presenilin 1 gene (PSEN1) in a Japanese family:: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum
Takao, M
Ghetti, B
Hayakawa, I
Ikeda, E
Fukuuchi, Y
Miravalle, L
Piccardo, P
Murrell, JR
Glazier, BS
Koto, A
ACTA NEUROPATHOLOGICA, 2002, 104 (02) : 155 - 170

← 1 2 3 4 5 →