Evolution of a tumor-like lesion in cerebroretinal vasculopathy and trex1 mutation

Neurology

Volumn 75, Issue 13, 2010, Pages 1211-1213

  Mateen, F J ^a   Krecke, K ^b   Younge, B R ^b   Ford, A L ^c   Shaikh, A ^c   Kothari, P H ^c   Atkinson, J P ^c  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MAYO CLINIC   (United States)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLSALICYLIC ACID; ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; BUSPIRONE; C REACTIVE PROTEIN; CLONAZEPAM; DEXAMETHASONE; FLUTICASONE; LEVOTHYROXINE; PREGABALIN; TRAZODONE; EXODEOXYRIBONUCLEASE; PHOSPHOPROTEIN; THREE PRIME REPAIR EXONUCLEASE 1;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CARDIOVASCULAR DISEASE; CASE REPORT; CEREBRORETINAL VASCULOPATHY; CLINICAL FEATURE; DEPRESSION; FEMALE; FIBROMYALGIA; FRAMESHIFT MUTATION; HEADACHE; HUMAN; HYPOTHYROIDISM; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RETINA EXAMINATION; SINUSITIS; TREX1 GENE; VASCULAR DISEASE; VISUAL ACUITY; BRAIN DISEASE; DIFFUSION WEIGHTED IMAGING; GENETICS; METHODOLOGY; MUTATION; PATHOLOGY; RETINA BLOOD VESSEL; RETINA DISEASE;

ADULT; BRAIN DISEASES; DIFFUSION MAGNETIC RESONANCE IMAGING; EXODEOXYRIBONUCLEASES; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MUTATION; PHOSPHOPROTEINS; RETINAL DISEASES; RETINAL VESSELS;

EID: 77957970103     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181f4d7ac     Document Type: Article

References (7)

1. Grand MG, Kaine J, Fulling K, et al. Cerebroretinal vascu-lopathy: a new hereditary syndrome. Ophthalmology 1988;95:649-659.
2. 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
3. Entrez-Pubmed Gene References into Function. Available at: http://www.ncbi.nlm.nih.gov/sites/entrez?cmd-current= &db=gene&orig-db = genome&term=trex1&cmd=. Accessed August 30, 2009.
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5. Chowdhury D, Beresford PJ, Zhu P, et al. The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death. Mol Cell 2006;23:133-142.
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7. 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 4G57 locus. Nat Genet 2006;38:917-920.