Table 1.
Demographic details of the CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) subjects and controls
| Group (n) | Age (years) | Gender | Mutation | Duration (years) | Notable 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 tumour |
| CAD10 | 52 | M | Arg141Cys | 15 | No vascular risk |
| CAD11 | 74 | M | Arg141Cys | 12 | No vascular risk |
| CADASIL (11) | 58.8 ± 7.4 | 7M/4F | – | – | |
| Controls (10) | 65.7 ± 8.1 | 3M/7F | – | No significant cerebrovascular or neurodegenerative disorder. No pathological diagnosis |
The mini-mental state examination (MMSE) scores for the patients ranged from 12 to 21. Mean age of controls was not significantly different from mean age of CADASIL group (P > 0.05). CADASIL cases used for SMI32 axonal analysis are designated as CAD1 to CAD9. Cases CAD10 and CAD11 were included in the sclerotic index, APP, GFAP and white matter score analysis.
F, female; M, male.