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. 2022 Mar 8;98(10):417-418.

doi: 10.1212/WNL.0000000000013294. Epub 2022 Jan 7.

Cutaneous Lesions as a Clue to the Etiology of Extensive Intracranial Calcifications: Aicardi-Goutières Syndrome

Yi-Heng Zeng¹, Miao Zhao¹, Xin-Xin Guo¹, Ning Wang¹, Wan-Jin Chen²

Affiliations

Affiliations

¹ From the Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, China.
² From the Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, China. wanjinchen75@fjmu.edu.cn.

PMID: 34996880
PMCID: PMC8967393
DOI: 10.1212/WNL.0000000000013294

Cutaneous Lesions as a Clue to the Etiology of Extensive Intracranial Calcifications: Aicardi-Goutières Syndrome

Yi-Heng Zeng et al. Neurology. 2022.

. 2022 Mar 8;98(10):417-418.

doi: 10.1212/WNL.0000000000013294. Epub 2022 Jan 7.

Authors

Yi-Heng Zeng¹, Miao Zhao¹, Xin-Xin Guo¹, Ning Wang¹, Wan-Jin Chen²

Affiliations

¹ From the Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, China.
² From the Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, China. wanjinchen75@fjmu.edu.cn.

PMID: 34996880
PMCID: PMC8967393
DOI: 10.1212/WNL.0000000000013294

No abstract available

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Figures

Figure. Brain CT and Cutaneous Findings in Aicardi-Goutières Syndrome
(A–C) Brain CT reveals severe and extensive bilateral intracranial calcifications in the basal ganglia, thalamus, cerebellum, and subcortical white matter. (D) Dermatology examination uncovers small hypopigmented macules in the dorsal aspect of both hands.

See this image and copyright information in PMC

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References

1. Rice GI, Kasher PR, Forte GM, et al. . Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet. 2012;44(11):1243-1248. - PMC - PubMed
1. Crow YJ, Hayward BE, Parmar R, et al. . Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet. 2006;38(8):917-920. - PubMed

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