Article
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Nature communications - 13 Mar 2024
Chelban Viorica, Aksnes Henriette, Maroofian Reza, LaMonica Lauren C, Seabra Luis, Siggervåg Anette, Devic Perrine, Shamseldin Hanan E, Vandrovcova Jana, Murphy David, Richard Anne-Claire, Quenez Olivier, Bonnevalle Antoine, Zanetti M Natalia, Kaiyrzhanov Rauan, Salpietro Vincenzo, Efthymiou Stephanie, Schottlaender Lucia V, Morsy Heba, Scardamaglia Annarita, Tariq Ambreen, Pagnamenta Alistair T, Pennavaria Ajia, Krogstad Liv S, Bekkelund Åse K, Caiella Alessia, Glomnes Nina, Brønstad Kirsten M, Tury Sandrine, Moreno De Luca Andrés, Boland-Auge Anne, Olaso Robert, Deleuze Jean-François, Anheim Mathieu, Cretin Benjamin, Vona Barbara, Alajlan Fahad, Abdulwahab Firdous, Battini Jean-Luc, İpek Rojan, Bauer Peter, Zifarelli Giovanni, Gungor Serdal, Kurul Semra Hiz, Lochmuller Hanns, Da'as Sahar I, Fakhro Khalid A, Gómez-Pascual Alicia, Botía Juan A, Wood Nicholas W, Horvath Rita, Ernst Andreas M, Rothman James E, McEntagart Meriel, Crow Yanick J, Alkuraya Fowzan S, Nicolas Gaël, Arnesen Thomas, Houlden Henry
Abstract excerpt
Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently linked to variants in six different genes, but most patients remain genetically undiagnosed. Here, we identify biallelic NAA60 variants in ten individuals from seven families with autosomal...
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