scholarly journals The Longitudinal Early‐onset Alzheimer's Disease Study (LEADS): Framework and methodology

2021 ◽  
Author(s):  
Liana G. Apostolova ◽  
Paul Aisen ◽  
Ani Eloyan ◽  
Anne Fagan ◽  
Keith N. Fargo ◽  
...  
2020 ◽  
Vol 16 (S5) ◽  
Author(s):  
Jessica A. Collins ◽  
Rania Ezzo ◽  
Prashanthi Vemuri ◽  
Bret J Borowski ◽  
Leonardo Iaccarino ◽  
...  

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Taylor Diedrich ◽  
Dustin Hammers ◽  
Sára Nemes

Background: The Learning Ratio (LR) is a novel marker of learning capacity. Unlike traditional raw learning scores (RLS), LR controls for the number of words learned by participants after the first trial, thus avoiding a common confound with learning slope research. While investigation has been conducted on the relationship between LR and late-onset Alzheimer’s Disease, little to no information on LR in the context of early-onset Alzheimer’s Disease (EOAD) exists. The goal of this study was to establish criterion validity for the LR by showing that it outperforms the traditional RLS in EOAD. Methods: Rey Auditory Verbal Learning Test individual trial scores (Trials 1-5) were obtained from 314 participants (82 cognitively normal [CN], 168 EOAD, and 64 Early-Onset Non-Alzheimer’s Disease [EOnonAD]) enrolled in the Longitudinal Early-Onset Alzheimer’s Disease Study. RLS for each participant was calculated as follows: Highest Trial score (of Trials 2 through 5) – Trial One score. LR was calculated as follows: RLS / (Maximum trial score possible – Trial One score). In essence, LR is the proportion of available information learned after Trial 1. Results: When controlling for age, education, sex, and ethnicity, significant differences were observed between groups for both LR (p<0.001, η=0.485) and RLS (p<0.001, η=0.325). For both LR and RLS, CN participants performed better than EOnonAD participants, who performed better than EOAD participants. Upon direct comparison, the magnitude of the effect for LR was stronger than for RLS. Conclusion: Results support criterion validity for LR by establishing that LR values are consistently lower for more severe disease states to a greater extent than a traditional learning metric. Such a finding suggests that LR is useful for measuring learning for those with EOAD.


2014 ◽  
Author(s):  
Joseph P. Barsuglia ◽  
Michelle J. Mather ◽  
Hemali V. Panchal ◽  
Aditi Joshi ◽  
Elvira Jimenez ◽  
...  

2018 ◽  
Author(s):  
Natalia Acosta-Baena ◽  
Carlos Mario Lopera-G&oacute;mez ◽  
Mario C&eacute;sar Jaramillo-Elorza ◽  
Margarita Giraldo-Chica ◽  
Mauricio Arcos-Burgos ◽  
...  

2020 ◽  
Vol 17 (5) ◽  
pp. 438-445
Author(s):  
Van Giau Vo ◽  
Jung-Min Pyun ◽  
Eva Bagyinszky ◽  
Seong S.A. An ◽  
Sang Y. Kim

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.


Author(s):  
Trang Mai Tong ◽  
Thuy Thi Hong Dao ◽  
Loc Phuoc Doan ◽  
Dat Thanh Nguyen ◽  
Quynh-Tho Thi Nguyen ◽  
...  

2010 ◽  
Vol 468 (1) ◽  
pp. 34-37 ◽  
Author(s):  
Jifeng Guo ◽  
Jiaohua Wei ◽  
Shusheng Liao ◽  
Lei Wang ◽  
Hong Jiang ◽  
...  

1995 ◽  
Vol 4 (8) ◽  
pp. 1355-1364 ◽  
Author(s):  
Marc Cruts ◽  
Hubert Backhovens ◽  
Jessie Theuns ◽  
Robert F. Clark ◽  
Denis Le Paslier ◽  
...  

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