Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

• Published in: Neuropediatrics Vol. 48; no. 3; p. 166
• Main Authors: Rice, Gillian I, Kitabayashi, Naoki, Barth, Magalie, Briggs, Tracy A, Burton, Annabel C E, Carpanelli, Maria Luisa, Cerisola, Alfredo M, Colson, Cindy, Dale, Russell C, Danti, Federica Rachele, Darin, Niklas, De Azua, Begoña, De Giorgis, Valentina, De Goede, Christian G L, Desguerre, Isabelle, De Laet, Corinne, Eslahi, Atieh, Fahey, Michael C, Fallon, Penny, Fay, Alex, Fazzi, Elisa, Gorman, Mark P, Gowrinathan, Nirmala Rani, Hully, Marie, Kurian, Manju A, Leboucq, Nicolas, Lin, Jean-Pierre S-M, Lines, Matthew A, Mar, Soe S, Maroofian, Reza, Martí-Sanchez, Laura, McCullagh, Gary, Mojarrad, Majid, Narayanan, Vinodh, Orcesi, Simona, Ortigoza-Escobar, Juan Dario, Pérez-Dueñas, Belén, Petit, Florence, Ramsey, Keri M, Rasmussen, Magnhild, Rivier, François, Rodríguez-Pombo, Pilar, Roubertie, Agathe, Stödberg, Tommy I, Toosi, Mehran Beiraghi, Toutain, Annick, Uettwiller, Florence, Ulrick, Nicole, Vanderver, Adeline, Waldman, Amy, Livingston, John H, Crow, Yanick J
• Format: Journal Article
• Language: English
• Published: Germany 01.06.2017
• Subjects: Adenosine Deaminase - genetics; Adolescent; Adult; Autoimmune Diseases of the Nervous System - diagnostic imaging; Autoimmune Diseases of the Nervous System - genetics; Autoimmune Diseases of the Nervous System - immunology; Biomarkers - metabolism; Child; Child, Preschool; Female; Humans; Infant; Interferon Type I - metabolism; Male; Mutation; Nervous System Malformations - diagnostic imaging; Nervous System Malformations - genetics; Nervous System Malformations - immunology; Phenotype; RNA-Binding Proteins - genetics; Young Adult

We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in . The clinicoradiological phenotype encompassed a spectrum of Aicardi-Goutières syndrome, isolated bilateral striatal necrosis, spastic paraparesis with normal...