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. 2022 Mar 23;42(5):962–974. doi: 10.1007/s10875-022-01209-5

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© The Author(s) 2022

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — AGS patients harboring compound heterozygous RNU7-1 mutations. a Cranial ultrasound of P1 revealed hyperechogenic lines located in the area of lenticulostriate vessels, a radiological image compatible with lenticulostriate vasculopathy (left upper panel). Lenticulostriate ischemic lacunar cerebral infarct on T2-weighted MRI image of P1 (left lower panel). Neuroimaging of P2 and P3 showing spot-like calcifications periventricular and in the basal ganglia on brain CT (right upper and lower panel). b Postmortem histologic examination of brain tissue of P3 revealed numerous calcifications in the walls of arterioles and capillaries (*) with granulovacuolar degeneration of neurons (arrow) adjacent to the affected vessels (left upper panel, 20 ×). Centrum semi-ovale exhibited perivascular crowding of CD68 + activated microglia and histiocytes (left lower panel, 20 ×). Hematoxylin and eosin (HE) stain of the kidney showed a glomerulus with fibrin thrombi (*) and an arteriole with intramural fibrin precipitation (#) (right upper panel, 200 ×). Silver staining (Jones methenamine) of a glomerulus with mesangiolysis and endothelial swelling (*), segmental sclerosis (oval), and a nearby arteriole with “onion-skinning” (arrow) (right lower panel, 200 ×). c Familial pedigree of patients harboring biallelic mutations in RNU7-1 with electropherograms in comparison to a healthy control (HC). d Clustal Omega alignment of RNU7-1 homologs with mutations of P1, P2, and P3 depicted above (red) and pathogenic variants in RNU7-1 reported to data below (gray) [7]