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Table 1 Clinical, demographic data and classic CSF biomarker levels

From: Cerebrospinal fluid Presenilin-1 increases at asymptomatic stage in genetically determined Alzheimer’s disease

Group Age (years) n (Gender) MMSE score CSF Aβ42 (pg/mL) CSF T-tau (pg/mL) CSF P-tau (pg/mL)
yNC
{yNC member of the same ADAD families}
45 ± 2 [25–60]
{37 ± 3 [25–47]}
n = 23 (15 F/8 M)
{6 F/2 M}
29 ± 1 [2530]
{29 ± 1 [2830]}
809 ± 44
{791 ± 84}
207 ± 15
{231 ± 29}
43 ± 3
{45 ± 11}
syADAD 45 ± 3 [31–59] n = 8 (5 F/3 M) 21 ± 2* [1128] 300 ± 54* 899 ± 186* 164 ± 60*
psADAD 36 ± 3 [24–41] n = 6 (4 F/2 M) 30 ± 1 [29, 30] 1120 ± 252 222 ± 26 49 ± 5
dDS 55 ± 2 [43–61] n = 10 (5 F/5 M) ND 411 ± 24* 788 ± 125*,a 106 ± 14*,a
ndDS 43 ± 2 [33–49] n = 10 (5 F/5 M) ND 570 ± 51* 232 ± 53 45 ± 8
eNC 67 ± 1 [61–80] n = 17 (11 F/6 M) 29 ± 1 [2630] 753 ± 30 197 ± 12 42 ± 2
sAD 68 ± 2 [54–83] n = 13 (9 F/4 M) 20 ± 1** [1824] 351 ± 17** 833 ± 87** 135 ± 18**
MCI due to AD 66 ± 1 [61–72] n = 12 (5 F/7 M 26 ± 1** [2030] 422 ± 31 618 ± 66** 81 ± 8**
  1. In the yNC group (younger controls), the values for the control subgroup of non-mutation carriers from the same families as the carriers of PSEN1 mutations are also indicated; the rest of cases correspond to subject without family history of ADAD. The PSEN1 mutations included in this study from syADAD cases (“symptomatic” autosomal dominant AD subjects) corresponded to 3 carriers of L286P, and one of I439S, S169P, L173F, L235R and L282R. Those psADAD subjects (pre-symptomatic subjects carrying mutations in PSEN1) were 3 carriers of M139T, and one of I439S, R220G and K239N. Patients with (dDS) or without (ndDS) signs of clinical dementia were also compared with yNC; sporadic AD (sAD) and mild-cognitive impaired (MCI) subjects were compared with elderly controls (eNC). Levels of Aβ42, T-tau and P-tau were determined by ELISA; the intra-assay coefficient of variability (CV) was below 5 % and inter-assay CV below 15 % for all the classical AD biomarkers, in agreement with previous reports [36]. The number of samples “n” for female (F) and male (M) subjects is indicated. The data represent the means ± SEM, and for age and MMSE (Minimental State Examination), the range of values is also indicated. *Significantly different (p <0.05) from the yNC group, aand from the ndDS group; **Significantly different (p <0.05) from the eNC group