Ontology highlight
ABSTRACT:
SUBMITTER: Rice GI
PROVIDER: S-EPMC5985975 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
Rice Gillian I GI Kitabayashi Naoki N Barth Magalie M Briggs Tracy A TA Burton Annabel C E ACE Carpanelli Maria Luisa ML Cerisola Alfredo M AM Colson Cindy C Dale Russell C RC Danti Federica Rachele FR Darin Niklas N De Azua Begoña B De Giorgis Valentina V De Goede Christian G L CGL Desguerre Isabelle I De Laet Corinne C Eslahi Atieh A Fahey Michael C MC Fallon Penny P Fay Alex A Fazzi Elisa E Gorman Mark P MP Gowrinathan Nirmala Rani NR Hully Marie M Kurian Manju A MA Leboucq Nicolas N Lin Jean-Pierre S-M JS Lines Matthew A MA Mar Soe S SS Maroofian Reza R Martí-Sanchez Laura L McCullagh Gary G Mojarrad Majid M Narayanan Vinodh V Orcesi Simona S Ortigoza-Escobar Juan Dario JD Pérez-Dueñas Belén B Petit Florence F Ramsey Keri M KM Rasmussen Magnhild M Rivier François F Rodríguez-Pombo Pilar P Roubertie Agathe A Stödberg Tommy I TI Toosi Mehran Beiraghi MB Toutain Annick A Uettwiller Florence F Ulrick Nicole N Vanderver Adeline A Waldman Amy A Livingston John H JH Crow Yanick J YJ
Neuropediatrics 20170410 3
We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in <i>ADAR1</i>. The clinicoradiological phenotype encompassed a spectrum of Aicardi-Goutières syndrome, isolated bilateral striatal necrosis, spastic paraparesis with normal neuroimaging, a progressive spastic dystonic motor disorder, and adult-onset psychological difficulties with intracranial calcification. Homozygous missense mutations were recorded in fiv ...[more]