A novel PSEN1 mutation in a family with late-onset Alzheimer's disease

被引:0
|
作者
Ricca, I. [1 ]
Valente, M. [1 ]
Grieco, G. S. [1 ]
Bini, P. [2 ]
Vitali, P. [3 ]
Cereda, C. [1 ]
机构
[1] C Mondino Natl Inst Neurol Fdn, Ctr Genom & Postgenom, Pavia, Italy
[2] C Mondino Natl Inst Neurol Fdn, Neurol Dept, Pavia, Italy
[3] C Mondino Natl Inst Neurol Fdn, Neuroradiol & Brain MRI Mondino Res Ctr, Pavia, Italy
关键词
D O I
暂无
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
引用
收藏
页码:S29 / S29
页数:1
相关论文
共 50 条
  • [21] Very early-onset sporadic Alzheimer's disease with a de novo mutation in the PSEN1 gene
    Lou, Fan
    Luo, Xiaoguang
    Li, Ming
    Ren, Yan
    He, Zhiyi
    NEUROBIOLOGY OF AGING, 2017, 53 : 193.e1 - 193.e5
  • [22] Novel PSEN1 gene mutation in a large Bulgarian pedigree with Alzheimer's disease and atypical phenotype
    Mehrabian, S.
    Traykov, L. T.
    Jordanova, A.
    Rademakers, R.
    Cruts, M.
    Raycheva, M. R.
    Van den Broeck, M.
    Kremensky, I.
    Van Broeckhoven, C.
    EUROPEAN JOURNAL OF NEUROLOGY, 2006, 13 : 41 - 41
  • [23] Mutation profile of APP, PSEN1, and PSEN2 in Chinese familial Alzheimer's disease
    Gao, Ying
    Ren, Ru-Jing
    Zhong, Zi-Lin
    Dammer, Eric
    Zhao, Qian-Hua
    Shan, Shan
    Zhou, Zheng
    Li, Xia
    Zhang, Yue-Qi
    Cui, Hai-Lun
    Hu, Yong-Bo
    Chen, Sheng-Di
    Chen, Jian-Jun
    Guo, Qi-Hao
    Wang, Gang
    NEUROBIOLOGY OF AGING, 2019, 77 : 154 - 157
  • [24] Characterization of spastic paraplegia in a family with a novel PSEN1 mutation
    Ringman, John M.
    Dorrani, Naghmeh
    Fernandez, Sara Gutierrez
    Signer, Rebecca
    Martinez-Agosto, Julian
    Lee, Hane
    Douine, Emilie D.
    Qiao, Yuchuan
    Shi, Yonggang
    D'Orazio, Lina
    Pawar, Sanjay
    Robbie, Leah
    Kashani, Amir H.
    Singer, Maxwell
    Byers, Joshua T.
    Magaki, Shino
    Guzman, Sam
    Sagare, Abhay
    Zlokovic, Berislav
    Cederbaum, Stephen
    Nelson, Stanley
    Sheikh-Bahaei, Nasim
    Chui, Helena C.
    Chavez-Gutierrez, Lucia
    Vinters, Harry V.
    BRAIN COMMUNICATIONS, 2023, 5 (02)
  • [25] Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease
    Lalli, Matthew A.
    Cox, Hannah C.
    Arcila, Mary L.
    Cadavid, Liliana
    Moreno, Sonia
    Garcia, Gloria
    Madrigal, Lucia
    Reiman, Eric M.
    Arcos-Burgos, Mauricio
    Bedoya, Gabriel
    Brunkow, Mary E.
    Glusman, Gustavo
    Roach, Jared C.
    Hood, Leroy
    Kosik, Kenneth S.
    Lopera, Francisco
    ALZHEIMERS & DEMENTIA, 2014, 10 (05) : S277 - +
  • [26] A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease
    Antonell, Anna
    Balasa, Mircea
    Oliva, Rafael
    Llado, Albert
    Bosch, Beatriz
    Fabregat, Neus
    Fortea, Juan
    Luis Molinuevo, Jose
    Sanchez-Valle, Raquel
    NEUROSCIENCE LETTERS, 2011, 496 (01) : 40 - 42
  • [27] An 1H-MRS framework predicts the onset of Alzheimer's disease symptoms in PSEN1 mutation carriers
    Londono, Ana C.
    Castellanos, Francisco X.
    Arbelaez, Andres
    Ruiz, Adriana
    Aguirre-Acevedo, Daniel C.
    Richardson, Alice M.
    Easteal, Simon
    Lidbury, Brett A.
    Arcos-Burgos, Mauricio
    Lopera, Francisco
    ALZHEIMERS & DEMENTIA, 2014, 10 (05) : 552 - 561
  • [28] Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia
    Park, Jiyun
    An, Seong Soo A.
    Giau, Vo Van
    Shim, Kyuhwan
    Youn, Young Chul
    Bagyinszky, Eva
    Kim, SangYun
    NEUROBIOLOGY OF AGING, 2017, 56 : 212.e11 - 212.e17
  • [29] A novel PSEN1 (S230N) mutation causing early -onset Alzheimer's Disease associated with prosopagnosia, hoarding, and Parkinsonism
    Ringman, John M.
    Casado, Maria
    Van Berlo, Victoria
    Pa, Judy
    Joseph-Mathurin, Nelly
    Fagan, Anne M.
    Benzinger, Tammie
    Bateman, Randall J.
    Morris, John C.
    NEUROSCIENCE LETTERS, 2017, 657 : 11 - 15
  • [30] Novel PSEN1 Mutation in a Bulgarian Patient With Very Early-Onset Alzheimer's Disease, Spastic Paraparesis, and Extrapyramidal Signs
    Traykov, Latchezar Dintchov
    Mehrabian, Shima
    Van den Broeck, Marleen
    Raycheva, Margarita Radoslavova
    Cruts, Marc
    Jordanova, Albena Kirilova
    Van Broeckhoven, Christine
    AMERICAN JOURNAL OF ALZHEIMERS DISEASE AND OTHER DEMENTIAS, 2009, 24 (05): : 404 - 407