Table 1.
Demographic details of CADASIL cases and controls. Abbreviations: GI = gastrointestinal; SVD = small vessel disease; WM = white matter
| Group (n) | Age (years) | Gender | Mutation site | Duration (years) | Key clinical features and risk factors |
|---|---|---|---|---|---|
| CAD1 | 44 | F | Arg153Cys | 8 | Cardiac arrhythmias |
| CAD2 | 53 | F | Arg133Cys | 6 | No vascular risk |
| CAD3 | 55 | M | Arg558Cys | 11 | Brief history of gout |
| CAD4 | 58 | M | Arg985Cys | 13 | No vascular risk |
| CAD5 | 59 | M | Arg169Cys | 12 | No vascular risk |
| CAD6 | 61 | M | Arg169Cys | 10 | Obesity (55 years‐) |
| CAD7 | 66 | F | D239_D253del | 23 | No vascular risk, obesity |
| CAD8 | 68 | F | Arg133Cys | 18 | Smoking history |
| CAD9 | 68 | M | Arg153Cys | 28 | Smoking, prostate tumor |
| CAD10 | 52 | M | Arg141Cys | 15 | No vascular risk |
| CAD11 | 74 | M | Arg141Cys | 12 | No vascular risk |
| CADASIL 11, a, b | 58.8 ± 7.4 | 7M/4F | — | 10.8 | Mean age at onset 46 years |
| Young Controls 10 | 65.7 ± 8.1 | 3M/7F | — | — | No significant cerebrovascular or neurodegenerative disorder. No pathological diagnosis |
| SVD 10 | 82.4 ± 8.1 | 4M/6F | — | 7.9 | Vascular dementia, heart failure, cancer, GI bleed, sudden death |
| Older controls 12 | 84.0 ± 8.0 | 3M/9F | — | — | No significant cerebrovascular or neurodegenerative disorder. Heart failure, cancer, ischemic bowel infection. |
Length of fixation ranged 1–19 months for CADASIL, young controls and SVD samples and 2–68 months for old controls.
a
WM Score; white matter pathology score assessed using scale from 10. The MMSE scores for the patients ranged from 12 to 21. Controls, mean age was not significantly different to mean age of CADASIL group (P > 0.05).
b
Mode of WM scores were 3 in young controls, 1 in young controls and 2 in older controls 9.