TABLE 3.
Clinical features of probands and affected family members carrying untypical NOTCH3 variants.
| Family | Patient IDa | Genderb | Agec | Onset aged | Clinical manifestatione | MRI features |
Genotypeg | |
| CMBs burden | WMH ratingf | |||||||
| R75P | I-1 | M | 67# | 58 | IS, CI | NP | NP | NP |
| II-1 | M | 66# | 51 | IS, CI | NP | NP | NP | |
| II-2 | F | 74 | 72 | IS, CI | 1 | 3/5/5/5/0/1/3 | R75P | |
| II-4 | F | 68 | 54 (43) | MA, IS, CI | 1 | 2/6/5/3/1/1/1 | R75P | |
| III-3 | M | 47 | – | Asymptomatic | 2 | 1/5/4/4/0/1/5 | NP | |
| III-7 | M | 45 | (38) | MA | 1 | 0/2/3/4/2/0/5 | NP | |
| R133S | I-2 | F | 68# | 50 | IS, CI | NP | NP | NP |
| II-2 | F | 54 | 51 | IS | 1 | 1/5/5/4/1/1/3 | R133S | |
| II-3 | M | 50 | 42 | IS, CI | 2 | 2/5/6/5/4/3/6 | R133S | |
| II-4 | M | 44 | 42 | IS | NP | 1/5/5/4/1/3/3 | NP | |
| I-2 | F | 55# | 55 (30) | MA, HS | NP | NP | NP | |
| V237M-1 | I-1 | M | 70# | 51 | HS, CI | NP | NP | NP |
| II-2 | M | 56 | 42 (35) | MA. IS | 2 | 5/4/4/4/3/1/3 | NP | |
| II-3 | F | 54 | 51 (35) | MA, CI | 2 | 1/6/6/6/0/1/3 | V237M | |
| V237M-2 | I-1 | M | 70# | 50 | IS, CI | NP | NP | NP |
| II-2 | F | 68 | 55 | IS, CI | 0 | 3/4/5/4/0/0/5 | V237M | |
| II-3 | M | 65 | 53 | IS, CI | 2 | 1/5/5/5/0/1/2 | NP | |
| II-4 | F | 63 | 50 | IS | 2 | 3/5/6/6/2/2/4 | NP | |
| R607H | I-2 | F | 55# | 55 (30) | MA, HS | NP | NP | NP |
| II-2 | M | 58 | 54 | IS, CI | NP | 2/5/6/6/5/1/1 | R607H | |
| II-3 | F | 55 | 49 | HS | 1 | 1/5/5/5/3/1/1 | R607H | |
| II-4 | F | 52 | 46 (38) | MA, IS | 2 | 1/5/6/5/1/1/3 | R607H | |
| R1100H | I-1 | M | 74 | 50 | IS, CI | NP | 1/5/6/5/5/2/6 | R1100H |
| II-1 | M | 54 | 53 | IS, CI | 1 | 1/3/4/4/5/2/1 | R1100H | |
| G1347R | I-1 | M | 67# | 50 | IS, CI | NP | NP | NP |
| II-1 | F | 63 | 52 | IS, CI | 1 | 1/5/5/4/0/1/5 | G1347R | |
| II-3 | F | 58 | 51 | IS, CI | 2 | 0/6/4/6/3/0/3 | G1347R | |
| II-4 | M | 55 | 48 | IS | 2 | 3/3/6/4/0/3/3 | G1347R | |
| R1761H | I-1 | M | 72 | 54 | IS, CI | NP | 1/5/6/6/0/3/4 | R1761H |
| II-1 | F | 58 | 54 | IS, CI | 1 | 0/4/4/3/3/1/0 | R1761H | |
| II-2 | M | 52 | 45 | CI, PD | NP | 2/4/5/5/0/2/3 | R1761H | |
| II-3 | F | 47 | 47 | IS, PD | 2 | 3/5/6/6/0/1/5 | R1761H | |
| III-4 | F | 25 | – | Asymptomatic | 0 | 0/2/4/5/0/1/0 | NP | |
| V1922L | I-2 | F | 72# | 55 | IS, CI | NP | NP | NP |
| II-2 | F | 60# | 59 | HS, CI | NP | NP | NP | |
| II-3 | F | 59 | 52 | IS | 1 | 0/5/4/4/0/1/5 | V1922L | |
| III-2 | M | 38 | – | Asymptomatic | 1 | 1/3/3/3/1/3/5 | V1922L | |
| S2203Y | I-2 | F | 70# | 57 | IS, CI, MA | NP | NP | NP |
| II-2 | M | 70 | 65 | IS, HS, CI | 2 | 3/5/6/5/0/3/5 | S2203Y | |
| II-3 | F | 66 | 60 | IS, CI | 0 | 2/5/4/4/1/1/3 | S2203Y | |
| III-4 | M | 40 | – | Asymptomatic | 1 | 3/5/5/5/1/2/3 | S2203Y | |
aProband patients were boldfaced. bM, male; F, female. cAge at evaluation; #deceased age. dOnset age of migraine is shown in the bracket. eMA, migraine; CI, cognitive impairment; IS, ischemia stroke; HS, hemorrhagic stroke; PD, psychiatric disorders. fWhite matter hyperintensity rating by the modified Schelten’s scale. The score was recorded as infratentorial/periventricular/frontal/parietal/temporal/occipital/external capsule. NP, not performed. gNP, not performed.