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Table 1 Group differences in demographic, clinical, and biomarker characteristics

From: White matter hyperintensities are a prominent feature of autosomal dominant Alzheimer’s disease that emerge prior to dementia

  Non-carriersa
(N = 21)
Cognitively unimpaired carriersb
(n = 20)
Cognitively impaired carriersc
(n = 9)
Sig
Demographics
Age — mean (SD) 33.8 (8.7) 32.6 (8.8) 47.3 (3.5) c > a***, c > b***
Education — mean (SD) 11.4 (3.3) 12.1 (2.6) 8.7 (4.1) b > c*
Female — n (%) 14 (66.7) 12 (60.0) 6 (66.7) ns
Cardiovascular risk factors
High blood pressure — n (%) 0 (0) 0 (0) 0 (0) ns
Diabetes — n (%) 0 (0) 0 (0) 0 (0) ns
Smoking — n (%) 1 (4.8) 2 (10.0) 2 (22.2) ns
BMI — mean (SD) 23.6 (2.8) 23.3 (3.8) 23.8 (2.9) ns
Cognitive status
FAST — median (IQR) 1 (0.0) 1 (0.0) 4 (2) c > a***, c > b***
MMSE — mean (SD) 29.8 (0.4) 29.8 (0.7) 23.3 (3.2) c < a***, c < b***
CERAD Word List Learning Composite — mean (SD) 36.6 (4.4) 37.3 (5.4) 10.8 (5.5) c < a***, c < b***
Neuroimaging markers
nWMH Vol. *1000 — median (IQR) 1.07 (0.71) 0.85 (0.79) 6.37 (9.15) c > a***, c > b***
Cerebral microbleeds — median (IQR) 0.0 (0) 0.0 (0) 0.0 (0) ns
Lacunes — median (IQR) 0.0 (0) 0.0 (0) 0.0 (0) ns
Superior parietal lobe cortical thickness  — median (IQR) 2.19 (0.17) 2.19 (0.17) 1.80 (0.23) c < a***, c < b***
Cortical amyloid PET (SUVR) — median (IQR) 0.80 (0.09) 0.95 (0.27) 1.13 (0.09) a < b***, a < c***
Cerebrospinal fluid markers
CSF Aβ42 — median (IQR) 495.1 (136.1) 357.8 (190.9) 233.6 (111.2) a > b*, a > c**
CSF ptau — median (IQR) 18.82 (7.73) 36.25 (43.63) 69.40 (66.04) a < b***, a < c***
  1. BMI Body Mass Index, SD Standard deviation, IQR Interquartile range, FAST Functional Assessment Staging Tool, MMSE Mini-Mental State Exam, nWMH Vol. Normalized white matter hyperintensity volume, SUVR Standardized uptake value ratio, PET Positron emission tomography, CSF Cerebrospinal fluid, ptau Phospho-tau, Amyloid-beta. *p < 0.05, **p < 0.01, ***p < 0.001