A novel presenilin 1 mutation (Ser169del) in a Chinese family with early-onset Alzheimer's disease

被引：21

作者：

Guo, Jifeng ^{[1
,3
]}

Wei, Jiaohua ^{[1
]}

Liao, Shusheng ^{[1
]}

Wang, Lei ^{[1
]}

Jiang, Hong ^{[1
,3
]}

Tang, Beisha ^{[1
,2
,3
]}

机构：

[1] Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China

[2] Natl Lab Med Genet China, Changsha 410008, Hunan, Peoples R China

[3] Cent S Univ, Neurodegenerat Disorders Res Ctr, Changsha 410008, Hunan, Peoples R China

来源：

NEUROSCIENCE LETTERS | 2010年 / 468卷 / 01期

基金：

中国国家自然科学基金;

关键词：

Familial Alzheimer's disease; Early-onset; Presenilin; 1; Mutation; MISSENSE MUTATIONS; GENE; ASSOCIATION;

D O I：

10.1016/j.neulet.2009.10.055

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Early-onset familial Alzheimer's disease (EOFAD) has been associated with mutations in three genes, of which presenilin 1 (PSEN1) mutations are the most frequent. Here we report a novel PSEN1 mutation in a Chinese family with autosomal dominant Alzheimer's disease with an onset age in the early 40s. Molecular genetic analysis showed a 507-509delATC mutation at codon 169, leading to the deletion of serine in residue 169 (Ser169del). The amnestic presentation and absence of other features contrast with the other two mutations at codon 169 which have been associated with myoclonic jerks and seizures. (C) 2009 Elsevier Ireland Ltd. All rights reserved.

引用

页码：34 / 37

页数：4

共 50 条

[31] A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease
Luedecke, Daniel
Becktepe, Jos S.
Lehmbeck, Jan T.
Finckh, Ulrich
Yamamoto, Raina
Jahn, Holger
Boelmans, Kai
NEUROSCIENCE LETTERS, 2014, 566 : 115 - 119
[32] Presenilin 1 mutations in Polish families with early-onset Alzheimer's disease
Kowalska, A
Pruchnik-Wolinska, D
Florczak, J
Szczech, J
Kozubski, W
Rossa, G
Wender, M
FOLIA NEUROPATHOLOGICA, 2004, 42 (01) : 9 - 14
[33] Probable Novel PSEN1 Gln222Leu Mutation in a Chinese Family with Early-Onset Alzheimer's Disease
Wang, Huayuan
Sun, Ruihua
Shi, Yingying
Xia, Mingrong
Zhao, Jing
Yang, Miaomiao
Ma, Limin
Sun, Yajing
Li, Gai
Zhang, Haohan
Qin, Weiwei
Zhang, Jiewen
CURRENT ALZHEIMER RESEARCH, 2019, 16 (08) : 764 - 769
[34] Presenilin 1 Gene Mutation (M139V) in a German Family with Early-Onset Alzheimer's Disease: A Case Report
Fuentes, Manuel
Schipke, Carola G.
Freiesleben, Silka Dawn
Klostermann, Arne
Peters, Oliver
ARCHIVES OF CLINICAL NEUROPSYCHOLOGY, 2022, 37 (02) : 521 - 530
[35] Identification of a novel interactor of the early-onset Alzheimer's disease presenilin proteins.
Mah, AL
Janicki, SM
Monteiro, MJ
MOLECULAR BIOLOGY OF THE CELL, 1998, 9 : 183A - 183A
[36] NOVEL PRESENILIN MUTATIONS WITHIN MOROCCAN PATIENTS WITH EARLY-ONSET ALZHEIMER'S DISEASE
El Kadmiri, N.
Zaid, N.
Zaid, Y.
Tadevosyan, A.
Hachem, A.
Dube, M. -P.
Hamzi, K.
El Moutawakil, B.
Slassi, I.
Nadifi, S.
NEUROSCIENCE, 2014, 269 : 215 - 222
[37] Ile143Thr Presenilin 1 Mutation in Sporadic Atypical Early-Onset Alzheimer's Disease
Travasarou, Maria
Marousi, Stella
Kyrimi, Vasiliki
Karageorgiou, Clementine E.
ANNALS OF NEUROLOGY, 2012, 72 : S53 - S53
[38] A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer's disease and spastic paraparesis
Raman, Ashok
Lin, Xia
Suri, Mohnish
Hewitt, Monica
Constantinescu, Cris S.
Phillips, Margaret F.
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2007, 260 (1-2) : 78 - 82
[39] Ile143Thr presenilin 1 mutation in sporadic atypical early-onset Alzheimer's disease
Travasarou, M.
Marousi, S.
Kyrimi, V.
Karageorgiou, C. E.
EUROPEAN JOURNAL OF NEUROLOGY, 2012, 19 : 464 - 464
[40] A novel presenilin 1 mutation (L174M) in a large Cuban family with early onset Alzheimer's disease
Bertoli-Avella, AM
van Duijn, CM
Teruel, BM
Heredero-Baute, L
LLibre-Rodriguez, JJ
Gomez-Viera, N
Borragero-Martinez, I
Severijnen, EA
Joosse, M
Heutink, P
NEUROBIOLOGY OF AGING, 2002, 23 (01) : S315 - S315

← 1 2 3 4 5 →