scholarly journals Presenilin 1 and APP gene mutations in early‐onset AD families from a southeast region of China

2020 ◽  
Vol 16 (S3) ◽  
Author(s):  
Guoping Peng
Keyword(s):  
Early Onset ◽  
Gene Mutations ◽  
Presenilin 1 ◽  
Southeast Region ◽  
App Gene

Presenilin 1 and APP Gene Mutations in Early-Onset AD Families from a Southeast Region of China

2020 ◽  
Vol 17 (6) ◽  
pp. 540-546
Author(s):  
Jiajia Zhou ◽  
Yi Chen ◽  
Fanxia Meng ◽  
Kan Zhang ◽  
Xiaoyan Liu ◽  
...  
Keyword(s):  
Amyloid Precursor Protein ◽  
Early Onset ◽  
Chinese Population ◽  
Gene Mutations ◽  
Splice Mutation ◽  
Chinese Patients ◽  
Presenilin 1 ◽  
Whole Exome ◽  
Presenilin 2 ◽  
App Gene

Background: Early-Onset Familial Alzheimer’s Disease (EOFAD) has been reported to be associated with Presenilin 1 (PSEN1), Presenilin 2 (PSEN2), and Amyloid Precursor Protein (APP) genes. The spectrum of mutations in Chinese patients with EOFAD was rarely investigated. Objective: To investigate the spectrum of mutations in patients with EOFAD in Chinese population. Methods: We performed whole-exome sequencing and described relevant clinical features in a total of 67 subjects from 3 families with EOFAD. Results: A splice mutation (p.S290C) in PSEN1 and a missense mutation (p.V717I) in APP were identified. Conclusion: The variant p. S290C (c.869-2>G) in PSEN1 in Chinese EOAD family revealed different clinical phenotypes when compared with that of Europeans.

Depressive Symptoms and APOE ε2 Broad the Natural History in Presenilin-1 E280A Familial Early-Onset Alzheimer's Disease

2018 ◽  
Author(s):  
Natalia Acosta-Baena ◽  
Carlos Mario Lopera-Gómez ◽  
Mario César Jaramillo-Elorza ◽  
Margarita Giraldo-Chica ◽  
Mauricio Arcos-Burgos ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Depressive Symptoms ◽  
Natural History ◽  
Early Onset ◽  
Presenilin 1 ◽  
Early Onset Alzheimer’S Disease

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

2010 ◽  
Vol 468 (1) ◽  
pp. 34-37 ◽  
Author(s):  
Jifeng Guo ◽  
Jiaohua Wei ◽  
Shusheng Liao ◽  
Lei Wang ◽  
Hong Jiang ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Presenilin 1 ◽  
Chinese Family ◽  
Presenilin 1 Mutation ◽  
Early Onset Alzheimer’S Disease

scholarly journals A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease

Neurogenetics ◽  
2002 ◽  
Vol 4 (2) ◽  
pp. 97-104 ◽  
Author(s):  
A. Bertoli Avella ◽  
B. Marcheco Teruel ◽  
J. Llibre Rodriguez ◽  
N. Gomez Viera ◽  
I. Borrajero Martinez ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Early Onset ◽  
Presenilin 1 ◽  
Presenilin 1 Mutation

scholarly journals A Novel p.Leu(381)Phe Mutation in Presenilin 1 is Associated with Very Early Onset and Unusually Fast Progressing Dementia as well as Lysosomal Inclusions Typically Seen in Kufs Disease

2014 ◽  
Vol 39 (1) ◽  
pp. 23-27 ◽  
Author(s):  
Natalia Dolzhanskaya ◽  
Michael A. Gonzalez ◽  
Fiorella Sperziani ◽  
Shannon Stefl ◽  
Jeffrey Messing ◽  
...  
Keyword(s):  
Early Onset ◽  
Presenilin 1 ◽  
Kufs Disease

scholarly journals Novel Presenilin 1 Mutations Associated With Early Onset of Dementia in a Family With Both Early-Onset and Late-Onset Alzheimer Disease

2000 ◽  
Vol 57 (10) ◽  
Author(s):  
Gayatria Devi ◽  
Alexandra Fotiou ◽  
Darlene Jyrinji ◽  
Benjamin Tycko ◽  
Steve DeArmand ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Early Onset ◽  
Late Onset ◽  
Presenilin 1

A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer’s disease and spastic paraparesis

2007 ◽  
Vol 260 (1-2) ◽  
pp. 78-82 ◽  
Author(s):  
Ashok Raman ◽  
Xia Lin ◽  
Mohnish Suri ◽  
Monica Hewitt ◽  
Cris S. Constantinescu ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Spastic Paraparesis ◽  
Presenilin 1 ◽  
Presenilin 1 Mutation ◽  
Early Onset Alzheimer’S Disease
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