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Table 1 Summary of preclinical studies on patients with familial AD

From: Fluid biomarkers in Alzheimer’s disease – current concepts

Familial AD
MCs NCs CSF Aβ42, T-tau, P-tau, Aβ42:Aβ40 ratio or plasma Aβ42 in MCs vs NCs Comment Ref
88 40 ↓ Aβ42 and ↑ T-tau in CSF, 10 and 15 years before expected symptom onset, respectively. ↑ Aβ42 in plasma 15 years before expected symptom onset. A linear model of biomarker levels in relation to time to expected onset of symptoms was created from cross-sectional data, and used for comparisons of biomarker levels at various points in time. According to this model, CSF Aβ42 seemed to decrease over 25 years prior to expected symptom onset. [11]
10 10 ↑ Aβ42 and ↑Aβ42: Aβ40 ratio in CSF and ↑ Aβ42 in plasma 20 years before expected onset of MCI. → T-tau and → P-tau in CSF. MCs had also elevated plasma Aβ42: Aβ40 ratios. [12]
9 5 ↓ Aβ42, ↑T-tau and ↑P-tau in CSF 17 years before expected dementia diagnosis. CSF Aβ42 levels were negatively correlated with age in MCs. [13]
6 6 ↑T-tau, ↑ P-tau, ↓ Aβ42: Aβ40 ratio in CSF and → Aβ42 in plasma 11 years before expected AD diagnosis. A trend towards ↓ Aβ42 in CSF (p = 0.53) was also seen.   [14]
5 (CSF), 8 (plasma) 4 (CSF), 9 (plasma) ↑T-tau, ↑ P-tau in CSF and ↑ Aβ42 in plasma 13 years before expected AD diagnosis. ↑ Aβ42:Aβ40 ratios in plasma among MCs were also seen. [15]
  1. = amyloid β; AD = Alzheimer’s disease; CSF = cerebrospinal fluid; MC = mutation carrier; NC = non-carrier; P-tau = hyperphosphorylated tau, Ref = reference; T-tau = total tau.