Retinal vasculopathy with cerebral leukoencephalopathy carrying <i>TREX1</i> mutation diagnosed by the intracranial calcification: a case report-Reference-Cited by-同舟云学术

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Retinal vasculopathy with cerebral leukoencephalopathy carrying TREX1 mutation diagnosed by the intracranial calcification: a case report

Published:2018 Issue:2 Volume:58 Page:111-117
ISSN:0009-918X
Container-title:Rinsho Shinkeigaku
language:en
Short-container-title:Rinsho Shinkeigaku

Author:

Komaki Ryouhei¹²,Ueda Takehiro¹,Tsuji Yukio¹,Miyawaki Toko¹,Kusuhara Sentaro³,Hara Shigeo⁴,Toda Tatsushi¹⁵

Affiliation:

1. Division of Neurology, Kobe University Graduate School of Medicine

2. Department of Neurology, Kita-Harima Medical Center

3. Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine

4. Department of Diagnostic Pathology, Kobe University Hospital

5. Department of Neurology, Graduate School of Medicine, The University of Tokyo

Publisher

Societas Neurologica Japonica

Subject

Neurology (clinical)

Link

https://www.jstage.jst.go.jp/article/clinicalneurol/58/2/58_cn-001096/_pdf

Reference21 articles.

1. 1) Richards A, van den Maagdenberg AM, Jen JC, et al. C-terminal truncations in human 3’-5’ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet 2007;39:1068-1070.

2. 2) Stam AH, Kothari PH, Shaikh A, et al. Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. Brain 2016;139:2909-2922.

3. 3) Crow YJ, Black DN, Ali M, et al. Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism. J Med Genet 2003;40:183-187.

4. 4) Rice GI, Rodero MP, Crow YJ. Human disease phenotypes associated with mutations in TREX1. J Clin Immunol 2015;35:235-243.

5. 5) Yamashiro K, Tanaka R, Li Y, et al. A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus. J Neurol 2013;260:2653-2655.

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3. Systemic inflammation and chronic kidney disease in a patient due to the RNASEH2B defect;Pediatric Rheumatology;2021-01-22

4. Genetically-regulated transcriptomics & copy number variation of proctitis points to altered mitochondrial and DNA repair mechanisms in individuals of European ancestry;BMC Cancer;2020-10-02

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