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Table 2 Demographic and clinical characteristics of the individuals carrying a TREM2 rare variant

From: Early increase of CSF sTREM2 in Alzheimer’s disease is associated with tau related-neurodegeneration but not with amyloid-β pathology

 

Non-carriers (n = 984)

p.R62H (n = 20)

p.R47H (n = 7)

p.L211P (n = 11)

p.D87N (n = 3)

p.R62H/D87N (n = 1)

p.H157Y (n =1)

Age, y

73.1 (7.35)

74.7 (6.47)

73.5 (11.3)

72.8 (4.36)

72.7 (6.17)

66.4

73.1

Female, n (%)

430 (43.7)

11 (55.0)

3 (42.9)

6 (54.5)

0

0

1

APOE ε4 carriers,

n (%)

467 (47.5)

8 (40.0)

5 (71.4)

2 (18.2)

2 (66.7)

0

0

Education, y

16.0 (2.78)

15.7 (2.39)

15.6 (2.07)

14.6 (2.54)

17.0 (2.65)

15.0

18.0

CSF biomarkers (pg/ml)

 T-tau

289 (136)

322 (140)

353 (125)

231 (119)

299 (100)

116

214

 P-tau181P

27.9 (14.9)

30.9 (15.6)

36.4 (15.8)

22.2 (12.7)

27.9 (11.5)

9.92

18.1

 Aβ1-42

982 (457)

1073 (437)

874 (454)

1246 (515)

944 (670)

925

1700

 sTREM2

4136 (2171)

3418 (1786)

8790 (6136)

2386 (1390)

1981 (244)

518

5642

 Associated diseases

na

AD

AD, FTD, PD, ALS

AD, FTD

AD

AD

AD

 References

na

[44, 45]

[7,8,9,10,11,12]

[42, 43]

[7]

[7, 44, 45]

[56]

  1. Data are expressed as mean and standard deviation (SD) or number (n) and percentage (%), as appropriate.
  2. Abbreviations: Aβ1-42 amyloid-β 42, AD Alzheimer’s disease, ALS amyotrophic lateral sclerosis, APOE apolipoprotein E, CSF cerebrospinal fluid, FTD frontotemporal dementia, na non-applicable, PD Parkinson’s disease, P-tau181P tau phosphorylated at threonine 181, T-tau total tau, y years.
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Molecular Neurodegeneration

ISSN: 1750-1326