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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