Erratum for the Research Article: “The Uppsala APP deletion causes early onset autosomal dominant Alzheimer’s disease by altering APP processing and increasing amyloid β fibril formation” by M. Pagnon de la Vega, V. Giedraitis, W. Michno, L. Kilander, G. Güner, M. Zielinski, M. Löwenmark, R. Brundin, T. Danfors, L. Söderberg, I. Alafuzoff, L. N. Nilsson, A. Erlandsson, D. Willbold, S. A. Müller, G. F. Schröder, J. Hanrieder, S. F. Lichtenthaler, L. Lannfelt, D. Sehlin, M. Ingelsson

2022 ◽  
Vol 14 (627) ◽  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Autosomal Dominant ◽  
Amyloid Β ◽  
Fibril Formation ◽  
App Processing ◽  
Research Article ◽  
Autosomal Dominant Alzheimer’S Disease

scholarly journals Florbetapir PET analysis of amyloid-β deposition in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: a cross-sectional study

2012 ◽  
Vol 11 (12) ◽  
pp. 1057-1065 ◽  
Author(s):  
Adam S Fleisher ◽  
Kewei Chen ◽  
Yakeel T Quiroz ◽  
Laura J Jakimovich ◽  
Madelyn Gutierrez Gomez ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Autosomal Dominant ◽  
Amyloid Β ◽  
Cross Sectional Study ◽  
Presenilin 1 ◽  
Sectional Study ◽  
Cross Sectional ◽  
Autosomal Dominant Alzheimer’S Disease

scholarly journals Longitudinal amyloid and tau accumulation in autosomal dominant Alzheimer’s disease: findings from the Colombia-Boston (COLBOS) biomarker study

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Justin S. Sanchez ◽  
Bernard J. Hanseeuw ◽  
Francisco Lopera ◽  
Reisa A. Sperling ◽  
Ana Baena ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Cognitive Decline ◽  
Symptom Onset ◽  
Autosomal Dominant ◽  
Amyloid Β ◽  
Cognitive Changes ◽  
Cross Sectional ◽  
Rates Of Change ◽  
Autosomal Dominant Alzheimer’S Disease

Abstract Background Neuroimaging studies of autosomal dominant Alzheimer’s disease (ADAD) enable characterization of the trajectories of cerebral amyloid-β (Aβ) and tau accumulation in the decades prior to clinical symptom onset. Longitudinal rates of regional tau accumulation measured with positron emission tomography (PET) and their relationship with other biomarker and cognitive changes remain to be fully characterized in ADAD. Methods Fourteen ADAD mutation carriers (Presenilin-1 E280A) and 15 age-matched non-carriers from the Colombian kindred underwent 2–3 sessions of Aβ (11C-Pittsburgh compound B) and tau (18F-flortaucipir) PET, structural magnetic resonance imaging, and neuropsychological evaluation over a 2–4-year follow-up period. Annualized rates of change for imaging and cognitive variables were compared between carriers and non-carriers, and relationships among baseline measurements and rates of change were assessed within carriers. Results Longitudinal measurements were consistent with a sequence of ADAD-related changes beginning with Aβ accumulation (16 years prior to expected symptom onset, EYO), followed by entorhinal cortex (EC) tau (9 EYO), neocortical tau (6 EYO), hippocampal atrophy (6 EYO), and cognitive decline (4 EYO). Rates of tau accumulation among carriers were most rapid in parietal neocortex (~ 9%/year). EC tau PET signal at baseline was a significant predictor of subsequent neocortical tau accumulation and cognitive decline within carriers. Conclusions Our results are consistent with the sequence of biological changes in ADAD implied by cross-sectional studies and highlight the importance of EC tau as an early biomarker and a potential link between Aβ burden and neocortical tau accumulation in ADAD.

Global Cardiovascular Risk Profile and Cerebrovascular Abnormalities in Presymptomatic Individuals with CADASIL or Autosomal Dominant Alzheimer’s Disease

2021 ◽  
pp. 1-13
Author(s):  
Dorothee Schoemaker ◽  
Lina Velilla ◽  
Yesica Zuluaga ◽  
Ana Baena ◽  
Carolina Ospina ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Cardiovascular Risk ◽  
Vascular Dementia ◽  
Early Onset ◽  
Autosomal Dominant ◽  
Risk Profile ◽  
Cardiovascular Risk Profile ◽  
Global Cardiovascular Risk ◽  
Autosomal Dominant Alzheimer’S Disease

Background: Cardiovascular risk factors increase the risk of developing dementia, including Alzheimer’s disease and vascular dementia. Objective: Studying individuals with autosomal dominant mutations leading to the early onset of dementia, this study examines the effect of the global cardiovascular risk profile on early cognitive and neuroimaging features of Alzheimer’s disease and vascular dementia. Methods: We studied 85 non-demented and stroke-free individuals, including 20 subjects with Presenilin1 (PSEN1) E280A mutation leading to the early onset of autosomal dominant Alzheimer’s disease (ADAD), 20 subjects with NOTCH3 mutations leading to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and to the early onset of vascular dementia, and 45 non-affected family members (non-carriers). All subjects underwent clinical and neuropsychological evaluations and an MRI. The global cardiovascular risk profile was estimated using the office-based Framingham Cardiovascular Risk Profile (FCRP) score. Results: In individuals with CADASIL, a higher FCRP score was associated with a reduced hippocampal volume (B = –0.06, p <  0.05) and an increased severity of cerebral microbleeds (B = 0.13, p <  0.001), lacunes (B = 0.30, p <  0.001), and perivascular space enlargement in the basal ganglia (B = 0.50, p <  0.05). There was no significant association between the FCRP score and neuroimaging measures in ADAD or non-carrier subjects. While the FCRP score was related to performance in executive function in non-carrier subjects (B = 0.06, p <  0.05), it was not significantly associated with cognitive performance in individuals with CADASIL or ADAD. Conclusion: Our results suggest that individuals with CADASIL and other forms of vascular cognitive impairment might particularly benefit from early interventions aimed at controlling cardiovascular risks.

IC-P-140: TAU ACCUMULATION AND MEMORY DECLINE ARE MORE CLOSELY RELATED TO STRIATAL THAN CORTICAL AMYLOIDOSIS IN INDIVIDUALS WITH EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER'S DISEASE

2006 ◽  
Vol 14 (7S_Part_2) ◽  
pp. P117-P117
Author(s):  
Bernard J. Hanseeuw ◽  
Francisco Lopera ◽  
Reisa A. Sperling ◽  
Daniel Norton ◽  
Edmarie Guzman-Velez ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Autosomal Dominant ◽  
Memory Decline ◽  
Autosomal Dominant Alzheimer’S Disease

Clinical and Genetic Analysis of a Chilean Family with Early-Onset Autosomal Dominant Alzheimer's Disease

2010 ◽  
Vol 21 (3) ◽  
pp. 757-761 ◽  
Author(s):  
Mariana Sinning ◽  
Jan Piere van Rooyen ◽  
Pablo Venegas-Francke ◽  
Carolina Vásquez ◽  
María Isabel Behrens ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Genetic Analysis ◽  
Early Onset ◽  
Autosomal Dominant ◽  
Autosomal Dominant Alzheimer’S Disease

scholarly journals THE VALUE OF PRE-SCREENING IN THE ALZHEIMER’S PREVENTION INITIATIVE (API) AUTOSOMAL DOMINANT ALZHEIMER’S DISEASE TRIAL

2017 ◽  
pp. 1-6
Author(s):  
S. Rios-Romenets ◽  
F. Lopera ◽  
E.M. Reiman ◽  
P.N. Tariot ◽  
J.B. Langbaum ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Autosomal Dominant ◽  
Amyloid Β ◽  
Clinical Progression ◽  
Screening Process ◽  
Work Requirements ◽  
Autosomal Dominant Alzheimer’S Disease ◽  
Prevention Trials ◽  
Imminent Risk

The Alzheimer’s Prevention Initiative (API) Autosomal Dominant Alzheimer’s Disease (ADAD) trial evaluates the anti-amyloid-β antibody crenezumab in cognitively unimpaired persons who, based on genetic background and age, are at high imminent risk of clinical progression, and provides a powerful test of the amyloid hypothesis. The Neurosciences Group of Antioquia implemented a pre-screening process with the goals of decreasing screen failures and identifying participants most likely to adhere to trial requirements of the API ADAD trial in cognitively unimpaired members of Presenilin1 E280A mutation kindreds. The pre-screening failure rate was 48.2%: the primary reason was expected inability to comply with the protocol, chiefly due to work requirements. More carriers compared to non-carriers, and more males compared to females, failed pre-screening. Carriers with illiteracy or learning/comprehension difficulties failed pre-screening more than non-carriers. With the Colombian API Registry and our prescreening efforts, we randomized 169 30-60 year-old cognitively unimpaired carriers and 83 non-carriers who agreed to participate in the trial for at least 60 months. Our findings suggest multiple benefits of implementing a pre-screening process for enrolling prevention trials in ADAD.

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