Journal article

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

Gillian I Rice, Naoki Kitabayashi, Magalie Barth, Tracy A Briggs, Annabel CE Burton, Maria Luisa Carpanelli, Alfredo M Cerisola, Cindy Colson, Russell C Dale, Federica Rachele Danti, Niklas Darin, Begona De Azua, Valentina De Giorgis, Christian GL De Goede, Isabelle Desguerre, Corinne De laet, Atieh Eslahi, Michael C Fahey, Penny Fallon, Alex Fay Show all

Neuropediatrics | GEORG THIEME VERLAG KG | Published : 2017


We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in ADAR1. 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 five families. We observed a p.Pro193Ala variant in the heterozygous state in 22 of 23 families with compound heterozygous mutations. We also ascertained 11 cases from nine families with a p.Gly1007Arg dominant..

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Awarded by European Research Council

Awarded by ERA-NET Neuron

Awarded by Medical Research Council

Awarded by National Institute for Health Research

Awarded by Rosetrees Trust

Awarded by Great Ormond Street Hospital Childrens Charity


Funding Acknowledgements

Y.J.C. acknowledges funding from the European Research Council (GA 309449: Fellowship to Y.J.C.), ERA-NET Neuron (MR/M501803/1), and a state subsidy managed by the National Research Agency (France) under the "Investments for the Future" (ANR-10-IAHU-01). T.A.B. acknowledges funding from the NIHR. V.N. and K.M.R. acknowledge the clinical support of the C4RCD Research Group.