Literature DB >> 15326633

Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome.

Yanick J Crow1, R F Massey, J R Innes, P W Pairaudeau, C A Rowland Hill, C G Woods, M Ali, J H Livingston, P Lebon, K Nischall, M McEntagart, N Hindocha, R M Winter.   

Abstract

We report on three children from two families with Aicardi-Goutières syndrome. All three had congenital glaucoma. Additionally, neuroimaging demonstrated significant brain stem atrophy in the affected sib-pair. These features have not been previously described in Aicardi-Goutières syndrome and expand the phenotypic spectrum.

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Year:  2004        PMID： 15326633     DOI： 10.1002/ajmg.a.30250

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  6 in total

Review 1.  Aicardi-Goutières syndrome and the type I interferonopathies.

Authors:  Yanick J Crow; Nicolas Manel
Journal:  Nat Rev Immunol       Date:  2015-06-05       Impact factor: 53.106

2.  The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.

Authors:  Kader Cetin Gedik; Lovro Lamot; Micol Romano; Erkan Demirkaya; David Piskin; Sofia Torreggiani; Laura A Adang; Thais Armangue; Kathe Barchus; Devon R Cordova; Yanick J Crow; Russell C Dale; Karen L Durrant; Despina Eleftheriou; Elisa M Fazzi; Marco Gattorno; Francesco Gavazzi; Eric P Hanson; Min Ae Lee-Kirsch; Gina A Montealegre Sanchez; Bénédicte Neven; Simona Orcesi; Seza Ozen; M Cecilia Poli; Elliot Schumacher; Davide Tonduti; Katsiaryna Uss; Daniel Aletaha; Brian M Feldman; Adeline Vanderver; Paul A Brogan; Raphaela Goldbach-Mansky
Journal:  Ann Rheum Dis       Date:  2022-01-27       Impact factor: 27.973

3.  Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:  Yanick J Crow; Diana S Chase; Johanna Lowenstein Schmidt; Marcin Szynkiewicz; Gabriella M A Forte; Hannah L Gornall; Anthony Oojageer; Beverley Anderson; Amy Pizzino; Guy Helman; Mohamed S Abdel-Hamid; Ghada M Abdel-Salam; Sam Ackroyd; Alec Aeby; Guillermo Agosta; Catherine Albin; Stavit Allon-Shalev; Montse Arellano; Giada Ariaudo; Vijay Aswani; Riyana Babul-Hirji; Eileen M Baildam; Nadia Bahi-Buisson; Kathryn M Bailey; Christine Barnerias; Magalie Barth; Roberta Battini; Michael W Beresford; Geneviève Bernard; Marika Bianchi; Thierry Billette de Villemeur; Edward M Blair; Miriam Bloom; Alberto B Burlina; Maria Luisa Carpanelli; Daniel R Carvalho; Manuel Castro-Gago; Anna Cavallini; Cristina Cereda; Kate E Chandler; David A Chitayat; Abigail E Collins; Concepcion Sierra Corcoles; Nuno J V Cordeiro; Giovanni Crichiutti; Lyvia Dabydeen; Russell C Dale; Stefano D'Arrigo; Christian G E L De Goede; Corinne De Laet; Liesbeth M H De Waele; Ines Denzler; Isabelle Desguerre; Koenraad Devriendt; Maja Di Rocco; Michael C Fahey; Elisa Fazzi; Colin D Ferrie; António Figueiredo; Blanca Gener; Cyril Goizet; Nirmala R Gowrinathan; Kalpana Gowrishankar; Donncha Hanrahan; Bertrand Isidor; Bülent Kara; Nasaim Khan; Mary D King; Edwin P Kirk; Ram Kumar; Lieven Lagae; Pierre Landrieu; Heinz Lauffer; Vincent Laugel; Roberta La Piana; Ming J Lim; Jean-Pierre S-M Lin; Tarja Linnankivi; Mark T Mackay; Daphna R Marom; Charles Marques Lourenço; Shane A McKee; Isabella Moroni; Jenny E V Morton; Marie-Laure Moutard; Kevin Murray; Rima Nabbout; Sheela Nampoothiri; Noemi Nunez-Enamorado; Patrick J Oades; Ivana Olivieri; John R Ostergaard; Belén Pérez-Dueñas; Julie S Prendiville; Venkateswaran Ramesh; Magnhild Rasmussen; Luc Régal; Federica Ricci; Marlène Rio; Diana Rodriguez; Agathe Roubertie; Elisabetta Salvatici; Karin A Segers; Gyanranjan P Sinha; Doriette Soler; Ronen Spiegel; Tommy I Stödberg; Rachel Straussberg; Kathryn J Swoboda; Mohnish Suri; Uta Tacke; Tiong Y Tan; Johann te Water Naude; Keng Wee Teik; Maya Mary Thomas; Marianne Till; Davide Tonduti; Enza Maria Valente; Rudy Noel Van Coster; Marjo S van der Knaap; Grace Vassallo; Raymon Vijzelaar; Julie Vogt; Geoffrey B Wallace; Evangeline Wassmer; Hannah J Webb; William P Whitehouse; Robyn N Whitney; Maha S Zaki; Sameer M Zuberi; John H Livingston; Flore Rozenberg; Pierre Lebon; Adeline Vanderver; Simona Orcesi; Gillian I Rice
Journal:  Am J Med Genet A       Date:  2015-01-16       Impact factor: 2.802

4.  Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition.

Authors:  Adeline Vanderver; Morgan Prust; Nadja Kadom; Scott Demarest; Yanick J Crow; Guy Helman; Simona Orcesi; Roberta La Piana; Carla Uggetti; Jichuan Wang; Heather Gordisch-Dressman; Marjo S van der Knaap; John H Livingston
Journal:  J Child Neurol       Date:  2014-12-22       Impact factor: 1.987

5.  Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression.

Authors:  Holger Thiele; Marcel du Moulin; Katarzyna Barczyk; Christel George; Wolfram Schwindt; Gudrun Nürnberg; Michael Frosch; Gerhard Kurlemann; Johannes Roth; Peter Nürnberg; Frank Rutsch
Journal:  Hum Mutat       Date:  2010-11       Impact factor: 4.878

Review 6.  Immunogenetics of the Ocular Anterior Segment: Lessons from Inherited Disorders.

Authors:  Jasmine Y Serpen; Stephen T Armenti; Lev Prasov
Journal:  J Ophthalmol       Date:  2021-06-28       Impact factor: 1.909
  6 in total

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