Early-Onset Aicardi-Goutières Syndrome-Reference-Cited by-同舟云学术

Early-Onset Aicardi-Goutières Syndrome

Published:2014-12-22 Issue:10 Volume:30 Page:1343-1348
ISSN:0883-0738
Container-title:Journal of Child Neurology
language:en
Short-container-title:J Child Neurol

Author:

Vanderver Adeline¹²,Prust Morgan³,Kadom Nadja⁴,Demarest Scott²,Crow Yanick J.⁵⁶,Helman Guy²,Orcesi Simona⁷,Piana Roberta La⁸,Uggetti Carla⁹,Wang Jichuan¹⁰,Gordisch-Dressman Heather¹⁰,van der Knaap Marjo S.¹¹,Livingston John H.¹²

Affiliation:

1. Center for Genetic Medicine Research, Children’s National Health System Washington, DC, USA

2. Department of Neurology, Children’s National Health System, Washington, DC, USA

3. Harvard Medical School, Harvard University, Boston, MA, USA

4. Department of Radiology, Children’s National Health System, Washington, DC, USA

5. Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, United Kingdom

6. Department of Genetics, INSERM U781, Université Paris Descartes- Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris, France

7. Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy

8. Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada

9. Unit of Neuroradiology, Department of Radiology, San Carlo Borromeo Hospital, Milano, Italy

10. Department of Biostatistics, Children’s National Health System, Washington, DC, USA

11. Department of Child Neurology, VU University Medical Center, Amsterdam, the Netherlands

12. Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom

Abstract

Aicardi-Goutières syndrome is an inherited leukodystrophy with calcifying microangiopathy and abnormal central nervous system myelination. As fewer diagnostic computed tomographic (CT) scans are being performed due to increased availability of magnetic resonance imaging (MRI), there is a potential for missed diagnoses on the basis of calcifications. We review a series of patients with MRIs selected from IRB-approved leukodystrophy biorepositories to identify MRI patterns for recognition of early-onset Aicardi-Goutières syndrome and scored for a panel of radiologic predictors. Each individual predictor was tested against disease status using exact logistic regression. Features for pattern recognition of Aicardi-Goutières syndrome are temporal lobe swelling followed by atrophy with temporal horn dilatation, early global cerebral atrophy and visible calcifications, as evidenced by 94.44% of cases of Aicardi-Goutières syndrome correctly classified with a sensitivity of 90.9% and specificity of 96.9%. We identify a panel of MRI features predictive of Aicardi-Goutières syndrome in young patients that would differentiate it from other leukoencephalopathies.

Publisher

SAGE Publications

Subject

Clinical Neurology,Pediatrics, Perinatology, and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/0883073814562252

Reference19 articles.

1. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

2. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

3. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

4. Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

5. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

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