Table 1.
Molecular characteristics and clinical data of the 11 index patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy mutations.
| Index patients (proband) | Sex | Age | Family history | Sign/symptoms | CADASIL mutation Exon/amino acid change | Stroke risk factors | MMSE(30)/MoCA(30) |
|---|---|---|---|---|---|---|---|
| 1 | M | 51 | − | Stroke, pseudobulbar palsy | 3/p.C117R | Smoking | 29/27 |
| 2 | F | 72 | − | Stroke, migraine, cognitive decline, gait disturbance, pseudobulbar palsy | 4/p.P167S | No | 22/15 |
| 3 | F | 66 | − | Migraine, emotional disorders | 11/p.R578C | No | 26/23 |
| 4 | F | 39 | + | Stroke | 11/p.R607C | Diabetes | - |
| 5 | M | 53 | − | Stroke, hemorrhage | 11/p.R607C | Hypertension | 29/26 |
| 6 | F | 52 | + | Stroke, migraine | 11/p.R607C | No | 30/28 |
| 7 | M | 72 | − | Stroke, pseudobulbar palsy, cognitive decline, gait disturbance | 11/p.R607C | Diabetes, hypertension smoking | 17/9 |
| 8 | M | 43 | − | Stroke, pseudobulbar palsy | 11/p.R607C | No | 19/13 |
| 9 | F | 81 | − | Stroke, cognitive decline | 13/p.P652S | No | 10/2 |
| 10 | M | 47 | − | Stroke, cognitive decline, pseudobulbar palsy, emotional disorders | 13/p.C709R | Smoking | 25/14 |
| 11 | F | 52 | − | Memory impairment, migraine, urgent urination | 20/p.R1100H | Hypertension | 30/28 |