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

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

scholarly journals Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK

1999 ◽  
Vol 13 (3) ◽  
pp. 256-256 ◽  
Author(s):  
Mark S. Palmer ◽  
Jonathan A. Beck ◽  
Tracy A. Campbell ◽  
Christine B. Humphries ◽  
Penelope K. Roques ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Presenilin 1 ◽  
Early Onset Alzheimer’S Disease ◽  
The Uk

Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease

2015 ◽  
Vol 36 (10) ◽  
pp. 2904.e9-2904.e11 ◽  
Author(s):  
Afef Achouri-Rassas ◽  
Nadia Ben Ali ◽  
Saloua Fray ◽  
Sondes Hadj Fredj ◽  
Meriem Kechaou ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Presenilin 1 ◽  
Presenilin 1 Mutation ◽  
Early Onset Alzheimer’S Disease ◽  
Tunisian Family

Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families

1996 ◽  
Vol 208 (3) ◽  
pp. 195-198 ◽  
Author(s):  
Kouzin Kamino ◽  
Shinji Sato ◽  
Yoshiyuki Sakaki ◽  
Aoi Yoshiiwa ◽  
Yumiko Nishiwaki ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Presenilin 1 ◽  
Early Onset Alzheimer’S Disease

A novel presenilin 1 L166H mutation in a pseudo-sporadic case of early-onset Alzheimer’s disease

2005 ◽  
Vol 26 (5) ◽  
pp. 349-350 ◽  
Author(s):  
R. Pantieri ◽  
M. Pardini ◽  
M. Cecconi ◽  
F. Dagna-Bricarelli ◽  
A. Vitali ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Sporadic Case ◽  
Presenilin 1 ◽  
Early Onset Alzheimer’S Disease

A novel presenilin 1 mutation (F388L) identified in a Chinese family with early-onset Alzheimer's disease

2017 ◽  
Vol 50 ◽  
pp. 168.e1-168.e4 ◽  
Author(s):  
Yihong Zhan ◽  
Honghua Zheng ◽  
Chen Wang ◽  
Zhouyi Rong ◽  
Naian Xiao ◽  
...  
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 Nelson-Aalen Estimate of the Incidence Rates of Early-Onset Alzheimer's Disease Associated with the Presenilin-1 Gene

2002 ◽  
Vol 32 (1) ◽  
pp. 1-42 ◽  
Author(s):  
Eng Hock Gui ◽  
Angus Macdonald
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Life Histories ◽  
Process Model ◽  
Single Gene ◽  
Later Life ◽  
Incidence Rates ◽  
Presenilin 1 ◽  
Early Onset Alzheimer’S Disease

AbstractWe analyse, in a probabilistic setting, Newcombe's (1981) life table method of estimating rates of onset of high-penetrance single-gene disorders, and extend this to a counting process model for individual life histories, including movement between risk groups arising from genetic testing and onset in relatives. A key result is that estimates of rates of onset at any age x must be conditioned only on information available when subjects were age x, even though their later life histories might be available to the investigator. This determines the data that must be included in pedigrees. We derive a Nelson-Aalen-type estimate of a function of the rate of onset, and show that when all that is known is that the persons in the study inherited a mutation with probability 1/2, the function estimated is bounded. In practice, the treatment of censored observations or the methods of ascertainment might cause the estimate to exceed this bound, which results in infinite estimates of the rate of onset but might be a useful diagnostic check on the presence of these features. We summarise the literature on mutations in the Presenilin-1 (PSEN-1) gene, associated with early-onset Alzheimer's disease (EOAD), and from published pedigrees we estimate rates of onset of EOAD.

Dopa Responsive Parkinsonism in an Early Onset Alzheimer’s Disease Patient with a Presenilin 1 Mutation (A434T)

2019 ◽  
Vol 71 (1) ◽  
pp. 7-13 ◽  
Author(s):  
Hyunjin Jo ◽  
Minkyeong Kim ◽  
Seongbeom Park ◽  
Jong Eun Park ◽  
Soo Hyun Cho ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Disease Patient ◽  
Presenilin 1 ◽  
Presenilin 1 Mutation ◽  
Early Onset Alzheimer’S Disease
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