HTRA1 and cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2: Seventeen cases carried pathogenic NOTCH3 variants, two had pathogenic variants in the HTRA1 gene that is associated with HTRA1-cerebral small vessel disease, designated by OMIM as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 2 (CADASIL2, 616779), while one had a novel variant (p.T567M) in the colony stimulating factor 1 receptor (CSF1R) gene.