MUTATIONS IN THREE GENES ARE ASSOCIATED WITH EARLY ONSET ALZHEIMER’S DISEASE

2010 ◽  
Author(s):  
PAUL E FRASER ◽  
PETER H ST GEORGE-HYSLOP
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Early Onset Alzheimer’S Disease

Distinct social-behavioral changes in frontotemporal dementia and early onset Alzheimer's disease

2014 ◽  
Author(s):  
Joseph P. Barsuglia ◽  
Michelle J. Mather ◽  
Hemali V. Panchal ◽  
Aditi Joshi ◽  
Elvira Jimenez ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Frontotemporal Dementia ◽  
Early Onset ◽  
Behavioral Changes ◽  
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

Identification of a Pathogenic PSEN1 Ala285Val Mutation Associated with Early-Onset Alzheimer’s Disease

2020 ◽  
Vol 17 (5) ◽  
pp. 438-445
Author(s):  
Van Giau Vo ◽  
Jung-Min Pyun ◽  
Eva Bagyinszky ◽  
Seong S.A. An ◽  
Sang Y. Kim
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Temporal Lobe ◽  
Early Onset ◽  
Parietal Lobe ◽  
Disease Diagnosis ◽  
Random Coil ◽  
Magnetic Resonance Imaging Scan ◽  
Preclinical Ad ◽  
Early Onset Alzheimer’S Disease

Background: Presenilin 1 (PSEN1) was suggested as the most common causative gene of early onset Alzheimer’s Disease (AD). Methods: Patient who presented progressive memory decline in her 40s was enrolled in this study. A broad battery of neuropsychological tests and neuroimaging was applied to make the diagnosis. Genetic tests were performed in the patient to evaluate possible mutations using whole exome sequencing. The pathogenic nature of missense mutation and its 3D protein structure prediction were performed by in silico prediction programs. Results: A pathogenic mutation in PSEN1 (NM_000021.3: c.1027T>C p.Ala285Val), which was found in a Korean EOAD patient. Magnetic resonance imaging scan showed mild left temporal lobe atrophy. Hypometabolism appeared through 18F-fludeoxyglucose Positron Emission Tomography (FDG-PET) scanning in bilateral temporal and parietal lobe, and 18F-Florbetaben-PET (FBB-PET) showed increased amyloid deposition in bilateral frontal, parietal, temporal lobe and hence presumed preclinical AD. Protein modeling showed that the p.Ala285Val is located in the random coil region and could result in extra stress in this region, resulting in the replacement of an alanine residue with a valine. This prediction was confirmed previous in vitro studies that the p.Trp165Cys resulted in an elevated Aβ42/Aβ40 ratio in both COS-1 and HEK293 cell lines compared that of wild-type control. Conclusion: Together, the clinical characteristics and the effect of the mutation would facilitate our understanding of PSEN1 in AD pathogenesis for the disease diagnosis and treatment. Future in vivo study is needed to evaluate the role of PSEN1 p.Ala285Val mutation in AD progression.

Genetic analysis of vietnamese patients with early-onset alzheimer's disease

2021 ◽  
pp. 1-10
Author(s):  
Trang Mai Tong ◽  
Thuy Thi Hong Dao ◽  
Loc Phuoc Doan ◽  
Dat Thanh Nguyen ◽  
Quynh-Tho Thi Nguyen ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Genetic Analysis ◽  
Early Onset ◽  
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

Genetic and physical characterization of the early-onset Alzheimer's disease AD3 locus on chromosome 14q24.3

1995 ◽  
Vol 4 (8) ◽  
pp. 1355-1364 ◽  
Author(s):  
Marc Cruts ◽  
Hubert Backhovens ◽  
Jessie Theuns ◽  
Robert F. Clark ◽  
Denis Le Paslier ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Physical Characterization ◽  
Early Onset Alzheimer’S Disease

scholarly journals Longitudinal brain atrophy and CSF biomarkers in early-onset Alzheimer’s disease

2021 ◽  
pp. 102804
Author(s):  
José Contador ◽  
Agnès Pérez-Millán ◽  
Adrià Tort-Merino ◽  
Mircea Balasa ◽  
Neus Falgàs ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Brain Atrophy ◽  
Early Onset ◽  
Csf Biomarkers ◽  
Early Onset Alzheimer’S Disease

O1-04-06: Elevated cerebrospinal fluid amyloid-Beta42 levels in young adults at genetic risk for early-onset alzheimer's disease

2011 ◽  
Vol 7 ◽  
pp. S102-S103 ◽  
Author(s):  
Eric Reiman ◽  
Carlos Velez-Pardo ◽  
Marelene Jimenez del Rio ◽  
Margarita Giraldo ◽  
Natalia Acosta-Baena ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Cerebrospinal Fluid ◽  
Young Adults ◽  
Genetic Risk ◽  
Early Onset ◽  
Early Onset Alzheimer’S Disease
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