TABLE 2.
Comparison of clinical features between Finnish CADASIL patients carrying the NOTCH3 variants p.Arg133Cys and p.Tyr1069Cys and other NOTCH3 variants
| p.Arg133Cys (n = 200) | p.Tyr1069Cys (n = 52) | Other (n = 42) | p‐value (p.Arg133Cys vs. other) | p‐value (p.Tyr1069Cys vs. other) | |
|---|---|---|---|---|---|
| Sex (F/M) | 104/96 | 28/24 | 23/19 | ||
| Family history | 118 (59%) | 29 (56%) | 26 (62%) | ||
| Predictive cases | 16 (8%) | 7 (13%) | 3 (7%) | ||
| Age at the time of predictive testing, mean ± SD | 33 ± 10.8 | 43 ± 10.8 | 41 ± 18.0 | ||
| Clinical features | |||||
| Clinical information available | 142 (71%) | 35 (67%) | 40 (95%) | ||
| Age at onset, mean ± SD | 46 ± 12.5 (n = 68) | 53 ± 5.7 (n = 8) | 49 ± 9.2 (n = 27) | .208 | .235 |
| Risk factors a | 32/142 (23%) | 6/35 (17%) | 13/40 (33%) | .216 | .184 |
| Migraine/headache | 48/142 (34%) | 8/35 (23%) | 21/40 (52%) | .042 | .010 |
| Ischemic stroke/TIA | 59/142 (42%) | 8/35 (23%) | 23/40 (58%) | .105 | .004 |
| ICH | 1/142 (1%) | 2/35 (6%) | 5/40 (13%) | .002 | .438 |
| Epilepsy | 6/142 (4%) | 1/35 (3%) | 5/40 (13%) | .066 | .206 |
| Psychiatric symptom | 15/142 (11%) | 3/35 (9%) | 7/40 (18%) | .272 | .321 |
| Cognitive impairment | 44/142 (31%) | 11/35 (31%) | 15/40 (38%) | .449 | .633 |
| GOM detected in skin biopsy b | 11/142 (8%) | 1/35 (3%) | 7/40 (18%) | .078 | .061 |
Abbreviations: F, female; GOM, granular osmiophilic material; ICH, intracerebral hemorrhage; M, male; SD, standard deviation; TIA, transient ischemic attack.
a
Risk factors include hypertension, smoking, diabetes, and hyperlipidemia.
b
GOM was detected in all patients with skin biopsy result available.