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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: 1-42 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.