scholarly journals Genetic association of the presenilin-1 regulatory region with early-onset Alzheimer's disease in a population-based sample

1999 ◽  
Vol 7 (7) ◽  
pp. 801-806 ◽  
Author(s):  
Cornelia M van Duijn ◽  
Marc Cruts ◽  
Jessie Theuns ◽  
Geert Van Gassen ◽  
Hubert Backhovens ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Genetic Association ◽  
Early Onset ◽  
Regulatory Region ◽  
Population Based ◽  
Presenilin 1 ◽  
Early Onset Alzheimer’S Disease

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

scholarly journals Evidence for Allelic Heterogeneity in Familial Early-Onset Alzheimer's Disease

1991 ◽  
Vol 158 (4) ◽  
pp. 471-474 ◽  
Author(s):  
Cornelia M. Van Duijn ◽  
Christine Van Broeckhoven ◽  
John A. Hardy ◽  
Alison M. Goate ◽  
Martin N. Rossor ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Epidemiological Study ◽  
Genetic Counselling ◽  
Early Onset ◽  
Age Of Onset ◽  
Population Based ◽  
Chromosome 21 ◽  
Allelic Heterogeneity ◽  
Early Onset Alzheimer’S Disease

Age of onset was examined for 139 members of 30 families affected by early-onset AD. Most (77%) of the variance of age of onset derived from differences between rather than within families. The constancy of age of onset within families was also observed in an analysis restricted to families derived from a population-based epidemiological study with complete ascertainment of early-onset AD. Furthermore, we observed clustering of age of onset within those families that support linkage to the predisposing locus on chromosome 21. Our data are compatible with the view that allelic heterogeneity at the AD locus may account for the similarity in age of onset within families. This finding may be of value for scientific studies of AD as well as for genetic counselling.

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
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