scholarly journals What can we learn from study of Alzheimer's disease in patients with Down syndrome for early-onset Alzheimer's disease in the general population?

2011 ◽  
Vol 3 (2) ◽  
pp. 13 ◽  
Author(s):  
Robyn A Wallace ◽  
Arthur J Dalton
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Down Syndrome ◽  
General Population ◽  
Early Onset ◽  
Early Onset Alzheimer’S Disease

scholarly journals Elucidating Pathogenic Mechanisms of Early-onset Alzheimer's Disease in Down Syndrome Patients

2017 ◽  
Vol 137 (7) ◽  
pp. 801-805 ◽  
Author(s):  
Masashi Asai ◽  
Takashi Kawakubo ◽  
Ryotaro Mori ◽  
Nobuhisa Iwata
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Down Syndrome ◽  
Early Onset ◽  
Pathogenic Mechanisms ◽  
Early Onset Alzheimer’S Disease

scholarly journals Monoaminergic impairment in Down syndrome with Alzheimer's disease compared to early‐onset Alzheimer's disease

2017 ◽  
Vol 10 (1) ◽  
pp. 99-111 ◽  
Author(s):  
Alain D. Dekker ◽  
Yannick Vermeiren ◽  
Maria Carmona‐Iragui ◽  
Bessy Benejam ◽  
Laura Videla ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Down Syndrome ◽  
Early Onset ◽  
Early Onset Alzheimer’S Disease

scholarly journals Genetic dissection of down syndrome-associated alterations in APP/amyloid-β biology using mouse models

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Justin L. Tosh ◽  
◽  
Elena R. Rhymes ◽  
Paige Mumford ◽  
Heather T. Whittaker ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Down Syndrome ◽  
Amyloid Precursor Protein ◽  
Mouse Models ◽  
Early Onset ◽  
Amyloid Β ◽  
Chromosome 21 ◽  
Extra Copy ◽  
Early Onset Alzheimer’S Disease

AbstractIndividuals who have Down syndrome (caused by trisomy of chromosome 21), have a greatly elevated risk of early-onset Alzheimer’s disease, in which amyloid-β accumulates in the brain. Amyloid-β is a product of the chromosome 21 gene APP (amyloid precursor protein) and the extra copy or ‘dose’ of APP is thought to be the cause of this early-onset Alzheimer’s disease. However, other chromosome 21 genes likely modulate disease when in three-copies in people with Down syndrome. Here we show that an extra copy of chromosome 21 genes, other than APP, influences APP/Aβ biology. We crossed Down syndrome mouse models with partial trisomies, to an APP transgenic model and found that extra copies of subgroups of chromosome 21 gene(s) modulate amyloid-β aggregation and APP transgene-associated mortality, independently of changing amyloid precursor protein abundance. Thus, genes on chromosome 21, other than APP, likely modulate Alzheimer’s disease in people who have Down syndrome.

scholarly journals Genetic dissection of Down syndrome-associated alterations in APP/amyloid-β biology using mouse models

2020 ◽  
Author(s):  
Justin L. Tosh ◽  
Ellie Rhymes ◽  
Paige Mumford ◽  
Heather T. Whittaker ◽  
Laura J. Pulford ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Down Syndrome ◽  
Amyloid Precursor Protein ◽  
Mouse Models ◽  
Early Onset ◽  
Amyloid Β ◽  
Chromosome 21 ◽  
Extra Copy ◽  
Early Onset Alzheimer’S Disease

AbstractIndividuals who have Down syndrome (caused by trisomy of chromosome 21), have a greatly elevated risk of early-onset Alzheimer’s disease, in which amyloid-β accumulates in the brain. Amyloid-β is a product of the chromosome 21 gene APP (amyloid precursor protein) and the extra copy or ‘dose’ of APP is thought to be the cause of this early-onset Alzheimer’s disease. However, other chromosome 21 genes likely modulate disease when in three-copies in people with Down syndrome. Here we show that an extra copy of chromosome 21 genes, other than APP, influences APP/Aβ biology. We crossed Down syndrome mouse models with partial trisomies, to an APP transgenic model and found that extra copies of subgroups of chromosome 21 gene(s) modulate amyloid-β aggregation and APP transgene-associated mortality, independently of changing amyloid precursor protein abundance. Thus, genes on chromosome 21, other than APP, likely modulate Alzheimer’s disease in people who have Down syndrome.

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
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