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

Artikel i vetenskaplig tidskrift
Författare Gillian I Rice
Naoki Kitabayashi
Magalie Barth
Tracy A Briggs
Annabel C E Burton
Maria Luisa Carpanelli
Alfredo M Cerisola
Cindy Colson
Russell C Dale
Federica Rachele Danti
Niklas Darin
Begoña De Azua
Valentina De Giorgis
Christian G L De Goede
Isabelle Desguerre
Corinne De Laet
Atieh Eslahi
Michael C Fahey
Penny Fallon
Alex Fay
Elisa Fazzi
Mark P Gorman
Nirmala Rani Gowrinathan
Marie Hully
Manju A Kurian
Nicolas Leboucq
Jean-Pierre S-M Lin
Matthew A Lines
Soe S Mar
Reza Maroofian
Laura Martí-Sanchez
Gary McCullagh
Majid Mojarrad
Vinodh Narayanan
Simona Orcesi
Juan Dario Ortigoza-Escobar
Belén Pérez-Dueñas
Florence Petit
Keri M Ramsey
Magnhild Rasmussen
François Rivier
Pilar Rodríguez-Pombo
Agathe Roubertie
Tommy I Stödberg
Mehran Beiraghi Toosi
Annick Toutain
Florence Uettwiller
Nicole Ulrick
Adeline Vanderver
Amy Waldman
John H Livingston
Yanick J Crow
Publicerad i Neuropediatrics
Volym 48
Nummer/häfte 3
Sidor 166-184
ISSN 1439-1899
Publiceringsår 2017
Publicerad vid Institutionen för kliniska vetenskaper, Avdelningen för pediatrik
Sidor 166-184
Språk en
Länkar dx.doi.org/10.1055/s-0037-1601449
www.ncbi.nlm.nih.gov/entrez/query.f...
Ämneskategorier Klinisk medicin

Sammanfattning

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-negative mutation, which occurred de novo in four patients, and was inherited in three families in association with marked phenotypic variability. In 50 of 52 samples from 34 patients, we identified a marked upregulation of type I interferon-stimulated gene transcripts in peripheral blood, with a median interferon score of 16.99 (interquartile range [IQR]: 10.64-25.71) compared with controls (median: 0.93, IQR: 0.57-1.30). Thus, mutations in ADAR1 are associated with a variety of clinically distinct neurological phenotypes presenting from early infancy to adulthood, inherited either as an autosomal recessive or dominant trait. Testing for an interferon signature in blood represents a useful biomarker in this context.

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