Table 4.
Genetic variants of the NOTCH3 gene and the clinical characteristics of patients with CADASIL.
| NOTCH3 Genetic Variant | Clinical Significance | Number of Patients | Age of Patient [Mean Age ± SD or Single Results] | Type of Headache | Headache Attack Duration [Hours] |
Number of Headache Attacks [Per Month] |
Changes in the MRI/CT Image | References | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MA | MO | Other Types of Headaches | No Headache | <24 | 24–48 | >48 | 1–2 | 3–4 | >4 | Vascular Changes/Ischemic Stroke | No Changes | ||||||
| TTH | Other | ||||||||||||||||
| p.Tyr189Cys | Pathogenic | 3 | 34.0 ± 1.0 | 3 | 0 | 0 | 0 | 0 | 0 | 0 | 3 | 2 | 1 | 0 | 2 | 1 | [49] |
| p.Arg153Cys | Pathogenic | 1 | 63 | 0 | 0 | 0 | 1 | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | 0 | [50] |
| p.Thr101= | Benign | ||||||||||||||||
| p.Cys144Arg | Likely pathogenic | 1 | 53 | 0 | 0 | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 | 0 | [51] |
| p.Ala202= p.Thr101= |
Benign | ||||||||||||||||
| p.Ala202= | Benign | 16 | 39.9 ± 13.0 | 9 | 1 | 1 | 4 | 1 | 14 | 1 | 1 | 10 | 2 | 4 | 3 | 13 | [52] |
| p.Thr101= and p.Ala202= |
Benign | 8 | 45.9 ± 13.5 | 5 | 1 | 1 | 1 | 0 | 4 | 3 | 1 | 3 | 1 | 4 | 2 | 6 | [53] |
| chr19:15192257 T>G, exon 4, codon: 128, Cysteine |
Not confirmed in the literature | 1 | 45 | 0 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Varsome page [48] |
SD—standard deviation, MA—migraine with aura, MO—migraine without aura, TTH—tension-type headache, MRI—magnetic resonance imaging, CT—computed tomography. Fisher’s exact test was used, statistically significant differences between MA and other headaches (p < 0.05).