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Mura Eleonora Masnada Silvia Antonello Clara Parazzini Cecilia Izzo Giana Garau Jessica Sproviero Daisy Cereda Cristina Orcesi Simona Veggiotti Pierangelo Zuccotti Gianvincenzo Dilillo Dario Penagini Francesca Tonduti Davide 《Metabolic brain disease》2021,36(5):859-863
Metabolic Brain Disease - Aicardi-Goutières Syndrome (AGS) is a monogenic leukodystrophy with pediatric onset, clinically characterized by a variable degree of neurologic impairment. It... 相似文献
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Gillian I. Rice Martin A.M. Reijns Stephanie R. Coffin Gabriella M.A. Forte Beverley H. Anderson Marcin Szynkiewicz Hannah Gornall David Gent Andrea Leitch Maria P. Botella Elisa Fazzi Blanca Gener Lieven Lagae Ivana Olivieri Simona Orcesi Kathryn J. Swoboda Fred W. Perrino Andrew P. Jackson Yanick J. Crow 《Human mutation》2013,34(8):1066-1070
Aicardi–Goutières syndrome is an inflammatory disorder resulting from mutations in TREX1, RNASEH2A/2B/2C, SAMHD1, or ADAR1. Here, we provide molecular, biochemical, and cellular evidence for the pathogenicity of two synonymous variants in RNASEH2A. Firstly, the c.69G>A (p.Val23Val) mutation causes the formation of a splice donor site within exon 1, resulting in an out of frame deletion at the end of exon 1, leading to reduced RNase H2 protein levels. The second mutation, c.75C>T (p.Arg25Arg), also introduces a splice donor site within exon 1, and the internal deletion of 18 amino acids. The truncated protein still forms a heterotrimeric RNase H2 complex, but lacks catalytic activity. However, as a likely result of leaky splicing, a small amount of full‐length active protein is apparently produced in an individual homozygous for this mutation. Recognition of the disease causing status of these variants allows for diagnostic testing in relevant families. 相似文献
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Patient‐reported outcomes measure for children born preterm: validation of the SOLE VLBWI Questionnaire,a new quality of life self‐assessment tool 下载免费PDF全文
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Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi–Goutières Syndrome
Marco Cattalini Jessica Galli Laura Andreoli Ivana Olivieri Giada Ariaudo Micaela Fredi IAGSA study group Simona Orcesi Angela Tincani Elisa Fazzi 《Journal of clinical immunology》2016,36(7):693-699
Purpose
The purpose of this study was to explore the presence of autoimmune manifestations and characterize the autoantibody production in a cohort of patients with Aicardi–Goutières syndrome (AGS).Methods
Seventeen patients with a genetically-confirmed diagnosis of AGS were recruited. At the time of enrollment, past medical and family history was reviewed, looking for possible signs or symptoms of autoimmune disorders. Blood samples were taken, for the detection of a panel of autoantibodies: anti-nuclear, anti-double-stranded-DNA, anti-nucleosome, anti-extractable nuclear antigens, anti-cardiolipin IgG/IgM, anti-β2glycoprotein I IgG/IgM, and anti-neutrophil cytoplasmic. We also measured complement levels determined as C3 and C4 quantification and total complement activity, measured as CH50.Results
Nine of seventeen patients presented with at least one first- or second-degree relative with a history of autoimmune diseases (the childrens’ mother or grand-mother in the majority of cases). A specific autoimmune disease was present in only one AGS patient, namely an autoimmune thyroiditis. Autoantibodies were present in 9/17 patients, with different patterns of positivity. Complement levels were normal in all the patients. There was no correlation between auto-antibody production and personal or family history of autoimmune diseases.Conclusions
Definite autoimmune diseases are not common in patients with AGS. Autoantibodies are mainly directed towards nucleic acids-containing elements but seem not to be pathogenic and, rather, may represent an epiphenomenon of the enhanced interferon production.9.
Livingston J Doherty D Orcesi S Tonduti D Piechiecchio A La Piana R Tournier-Lasserve E Majumdar A Tomkins S Rice G Kneen R van der Knaap M Crow Y 《Neuropediatrics》2011,42(6):227-233
Intracranial calcification (ICC) is a relatively common radiological finding in children undergoing investigation for neurological disorders. Many causes are recognised, and ICC is often regarded as a non-specific sign.From an ongoing study of ICC, we identified 5 patients with characteristic radiological features, in whom a mutation in the COL4A1 gene was found.All patients had CT and MR imaging. MR images demonstrated features of periventricular leukomalacia with irregular dilatation of the lateral ventricles with or without porencephaly, loss of hemispheric white matter volume, and high signal on T2 and FLAIR sequences within periventricular and deep white matter. Calcification was apparent on MR in 4 patients. CT scans demonstrated spot and linear calcification in the subependymal region and around areas of porencephaly. Calcification was also visible in the deep cerebral white matter and basal ganglia. 1 patient showed calcification in the central pons.ICC occurs in COL4A1-related disease. The radiological features are distinct from other conditions demonstrating recognisable patterns of ICC, such as congenital cytomegalovirus infection and Aicardi-Goutiéres syndrome. In the absence of a known risk factor for periventricular leukomalacia, the presence of these radio-logical findings should suggest the possibility of COL4A1-related disease. 相似文献
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