A novel mutation in the presenilin-1 (PS1) gene (A431E) associated with early-onset Alzheimer disease (AD).

被引:0
|
作者
Cochran, EJ
Murrell, JR
Fox, J
Ringman, J
Ghetti, B
机构
[1] Rush Presbyterian St Lukes Med Ctr, Chicago, IL 60612 USA
[2] Indiana Univ, Sch Med, Indianapolis, IN USA
[3] Univ Calif Irvine, Sch Med, Irvine, CA 92717 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
163
引用
收藏
页码:544 / 544
页数:1
相关论文
共 50 条
  • [1] Splicing mutation of Presenilin-1 gene for early-onset familial Alzheimer's disease
    Sato, S
    Kamino, K
    Miki, T
    Doi, A
    Ii, K
    St George-Hyslop, PH
    Ogihara, T
    Sakaki, Y
    [J]. HUMAN MUTATION, 1998, : S91 - S94
  • [2] Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene
    Smith, MJ
    Gardner, RJM
    Knight, MA
    Forrest, SM
    Beyreuther, K
    Storey, E
    McLean, CA
    Cotton, RGH
    Cappal, R
    Masters, CL
    [J]. NEUROREPORT, 1999, 10 (03) : 503 - 507
  • [3] Neuropathology in Early-Onset Alzheimer Disease associated with the Ala431Glu mutation in the Presenilin 1 gene
    Bonnin, Jose
    Epperson, Francine
    Richardson, Rose Marie
    Garringer, Holly
    Ghetti, Bernardino
    [J]. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2019, 78 (06): : 538 - 539
  • [5] Early-onset familial Alzheimer disease (AD) from the first American report: A presenilin 1 (PS1) mutation found in descendents.
    Murrell, JR
    Miravalle, L
    Foster, NL
    Albin, R
    Takao, M
    Ghetti, B
    [J]. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2001, 60 (05): : 543 - 543
  • [6] Corticobasal Syndrome in a Family with Early-Onset Alzheimer's Disease Linked to a Presenilin-1 Gene Mutation
    Navarro, Eloisa
    De Andres, Clara
    Guerrero, Carmen
    Gimenez-Roldan, Santiago
    [J]. MOVEMENT DISORDERS CLINICAL PRACTICE, 2015, 2 (04): : 388 - 394
  • [7] Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation
    Lopera, F
    Ardilla, A
    Martinez, A
    Madrigal, L
    ArangoViana, JC
    Lemere, CA
    ArangoLasprilla, JC
    Hincapie, L
    ArcosBurgos, M
    Ossa, JE
    Behrens, IM
    Norton, J
    Lendon, C
    Goate, AM
    RuizLinares, A
    Rosselli, M
    Kosik, KS
    [J]. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1997, 277 (10): : 793 - 799
  • [8] A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis
    Ataka, S
    Tomiyama, T
    Takuma, H
    Yamashita, T
    Shimada, H
    Tsutada, T
    Kawabata, K
    Mori, H
    Miki, T
    [J]. ARCHIVES OF NEUROLOGY, 2004, 61 (11) : 1773 - 1776
  • [9] Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation
    Crook, R
    Ellis, R
    Shanks, M
    Thal, LJ
    PerezTur, J
    Baker, M
    Hutton, M
    Haltia, T
    Hardy, J
    Galasko, D
    [J]. ANNALS OF NEUROLOGY, 1997, 42 (01) : 124 - 128
  • [10] Phenotypic Profile of Early-Onset Familial Alzheimer's Disease Caused by Presenilin-1 E280A Mutation
    Sepulveda-Falla, Diego
    Glatzel, Markus
    Lopera, Francisco
    [J]. JOURNAL OF ALZHEIMERS DISEASE, 2012, 32 (01) : 1 - 12