2012
DOI: 10.1016/s1474-4422(12)70228-4
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Brain imaging and fluid biomarker analysis in young adults at genetic risk for autosomal dominant Alzheimer's disease in the presenilin 1 E280A kindred: a case-control study

Abstract: Summary Background We previously detected functional brain imaging abnormalities in young adults at genetic risk for late-onset Alzheimer’s disease (AD). Here, we sought to characterize structural and functional magnetic resonance imaging (MRI), cerebrospinal fluid (CSF), and plasma biomarker abnormalities in young adults at risk for autosomal dominant early-onset AD. Biomarker measurements were characterized and compared in presenilin 1 (PSEN1) E280A mutation carriers and non-carriers from the world’s larges… Show more

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Cited by 474 publications
(394 citation statements)
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“…Given the substantial increase in Aβ observed in Rag5xfAD mice, we next sought to determine whether these findings arose from increased Aβ production or decreased clearance. Although autosomal-dominant AD is characterized primarily by mutations that increase production of Aβ or Aβ42/40 ratio (21,22), recent studies demonstrate that sporadic AD patients primarily accumulate Aβ as a result of impaired clearance (23-25).…”
Section: Increased Aβ Load Is Not a Results Of Increased App Expressiomentioning
confidence: 99%
“…Given the substantial increase in Aβ observed in Rag5xfAD mice, we next sought to determine whether these findings arose from increased Aβ production or decreased clearance. Although autosomal-dominant AD is characterized primarily by mutations that increase production of Aβ or Aβ42/40 ratio (21,22), recent studies demonstrate that sporadic AD patients primarily accumulate Aβ as a result of impaired clearance (23-25).…”
Section: Increased Aβ Load Is Not a Results Of Increased App Expressiomentioning
confidence: 99%
“…35 Other biomarkers such as parietal grey matter atrophy, greater right hippocampal, and parahippocampal activation have been identified through MRI brain imaging. Patients carrying the Presenilin 1 gene have been reported to have significantly higher concentrations of plasma and CSF AB 1-42, 36 although these findings have not always been replicated. 39 These biomarkers, although informative, are invasive, time consuming, and expensive.…”
Section: Glaucoma Ad and The Rnflmentioning
confidence: 99%
“…These methods include analyses of blood and CSF, neuroimaging, and genetic testing. 35,36 Pathophysiology of AD AD results in neuronal cell death in the brain as a result of accumulation of extracellular beta amyloid (AB) protein and intracellular hyperphosphorylated tau protein and neurofibrillary tangles. The accumulation of the AB protein interferes with inter-neuronal communication via synapses, whereas the build-up of tau protein affects the transport of essential nutrients within the neurone itself.…”
mentioning
confidence: 99%
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“…On the basis of the previous considerations, Reiman et al [14] followed-up 44 young adults from the Colombian Alzheimer's Prevention Initiative Registry in Medellín Antioquia (Colombia), including 20 PSEN1 E280A mutation carriers and 24 non-carriers. They underwent neuropsychological testing, lumbar puncture and venous puncture, and structural and functional MRI.…”
mentioning
confidence: 99%