scholarly journals Increased metabolic vulnerability in early-onset Alzheimer’s disease is not related to amyloid burden

Brain ◽  
2010 ◽  
Vol 133 (2) ◽  
pp. 512-528 ◽  
Author(s):  
Gil D. Rabinovici ◽  
Ansgar J. Furst ◽  
Adi Alkalay ◽  
Caroline A. Racine ◽  
James P. O’Neil ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Amyloid Burden ◽  
Early Onset Alzheimer’S Disease

scholarly journals The Usefulness of Biological and Neuroimaging Markers for the Diagnosis of Early-Onset Alzheimer's Disease

2011 ◽  
Vol 2011 ◽  
pp. 1-6 ◽  
Author(s):  
Alessandro Padovani ◽  
Nicola Gilberti ◽  
Barbara Borroni
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Identification ◽  
Early Onset ◽  
Amyloid Burden ◽  
Monogenic Disorder ◽  
Early Onset Alzheimer’S Disease ◽  
Few Data ◽  
Disease Stages

The recent proposed criteria for Alzheimer's Disease (AD) have strongly claimed the usefulness of biological and neuroimaging markers for early identification AD. Cerebrospinal fluid (CSF) Tau/Abeta ratio, hippocampal atrophy, posterior cingulate, and neocortical associative area hypometabolism, or amyloid burden evaluated by PiB compound, held the premises to increase diagnostic accuracy in the preclinical disease stages. Despite many efforts to identify subjects at risk of developing AD, less attention has been paid to presenile AD diagnosis. A few data are already available in early onset AD, mainly obtained in cases of monogenic disorder. In this paper, we discuss the current literature on the role of biological and neuroimaging markers in presenile AD.

scholarly journals Amyloid burden and metabolic function in early-onset Alzheimer's disease: parietal lobe involvement

Brain ◽  
2012 ◽  
Vol 135 (7) ◽  
pp. 2115-2125 ◽  
Author(s):  
R. Ossenkoppele ◽  
M. D. Zwan ◽  
N. Tolboom ◽  
D. M. E. van Assema ◽  
S. F. Adriaanse ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Parietal Lobe ◽  
Metabolic Function ◽  
Amyloid Burden ◽  
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
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