Fig. 1: NAA60 biallelic variants lead to primary familial brain calcifications.

a Pedigrees of the families with NAA60 biallelic variants identified in this study. b CT scan axial views illustrating brain calcification in patients with NAA60 biallelic variants. Image VII.b shows CT angiography of the brain revealing multifocal narrowing of the distal intracranial arteries, compatible with an intracranial vasculopathy likely secondary to intravascular calcium deposition. TCS total calcification score.