Table 1.

Main clinical and neuroimaging features of family members

Patient (sex, age in years) NOTCH3 variant	Livedo reticularis	Age at 1st stroke	Neurological manifestations	Brain MRI	Serology
III:2 (F, 49) p.(Arg735Ter) (homozygous)	Yes His.: n.a	3 months	Small vessel stroke Hemiparesis L; mild cognitive impairment; reduced mobility Syncopes, urinary incontinency, pseudobulbar palsy with dysphagia and unmotivated laughing	Diffuse WMH Multiple lacunar infarctions	n.a
III:3 (F, 41) p.(Arg735Ter) (homozygous)	Yes His.: normal	5 years	Small vessel stroke Hemiparesis R, ataxia, mild to moderate memory problems, progressive impairment of mobility, pseudobulbar palsy with dysarthria and unmotivated laughing	Diffuse WMH Multiple lacunar infarctions Microbleeds Normal MR angiography	Anti-phospholipid antibodies negative
II:1 (M, 54 +) n.a	Yes His.: n.a	None	None	n.a	n.a
II.2 (F, 72) p.(Arg735Ter) (heterozygous)	No	None	None	n.a	n.a
III:4 (F, 47) n.a	Yes His.:n.a	Childhood	Hemiparesis L since childhood, dysarthria, impaired mobility, memory problems	n.a	n.a
III:5 (M, 33) n.a	Yes His.: n.a	2 years	Hemiparesis R	n.a	n.a

R right side, L left side, WMH white matter hyperintensities, His histology, n.a. not available,  +  deceased

NOTCH3 complete variant description: NOTCH3: g.chr19:15296161G > A (GRCh37/hg19); c.2203C > T (NM_000435.2); p.(Arg735Ter) (rs773299588)