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. 2020 Sep 26;268(3):810–816. doi: 10.1007/s00415-020-10081-5

Fig. 1.

Fig. 1

Genealogical tree of the mutated family and representative brain MRI of patient III:3 a Pedigree of family 1: Unaffected family members are indicated by open symbols; affected members by closed symbols including livedo reticularis and cerebrovascular manifestations; half closed symbol (II:1) indicates partial phenotype of SS, with only livedo reticularis; diagonal bars through symbols denote deceased individuals. b Sanger-Sequence Pherograms showing the NOTCH3 variant in heterozygous form (II:3) and homozygous form (III:2, III:3). c Brain MRI from patient III:3 showing diffuse white matter hyperintensities on fluid-attenuated inversion recovery (FLAIR) images; lacunes on T1 and microbleeds on T2*-weighted images, lesions are depicted by an arrow