Figure MRIs, fluorescence angiography, and measurements of IFN-α–inducible genes in the patient carrying a novel mutation in the TREX1 geneInitial cerebral.

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Figure MRIs, fluorescence angiography, and measurements of IFN-α–inducible genes in the patient carrying a novel mutation in the TREX1 geneInitial cerebral MRI demonstrated focal patchy lesions in the subependymal areas of the frontal white matter and in the peritrigonal regions with a signal hyperintensity on T2-weighted and fluid-attenuated inversion recovery sequences (A.a and A.b) and with a partial rim enhancement of the lesions after IV gadolinium administration (B.a and B.b). MRIs, fluorescence angiography, and measurements of IFN-α–inducible genes in the patient carrying a novel mutation in the TREX1 geneInitial cerebral MRI demonstrated focal patchy lesions in the subependymal areas of the frontal white matter and in the peritrigonal regions with a signal hyperintensity on T2-weighted and fluid-attenuated inversion recovery sequences (A.a and A.b) and with a partial rim enhancement of the lesions after IV gadolinium administration (B.a and B.b). On T2*-weighted gradient echo sequences and susceptibility-weighted imaging (SWI), focal small signal hypointensities were noted in the areas of the lesions (C.a), which corresponded to areas of hyperattenuation on CT (C.b) and most likely represent areas of calcification. A follow-up examination 5 months later showed dissemination in time and space by new partially confluent T2 lesions (D.a and D.b). (E) The substantia nigra and nucleus ruber demonstrated a markedly decreased signal in T2*-weighted and SWI sequences, which potentially corresponds to increased iron depositions. (F) Fluorescence angiography of the right eye showed typical cotton-wool spots, focal leakage, and telangiectasias. (G) Upregulation of type I IFN–dependent genes, including the IFN-Iα–inducible protein 6 (IFI6) gene, the interferon-β (IFN-β) gene, the interferon-α–inducible protein 27 (IFI27) gene, and the DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 (DDX58) gene, compared to the 2 housekeeping genes cyclophilin (% Cyc) and glyceraldehyde-3-phosphate dehydrogenase (% GAPDH) (data not shown) in peripheral blood mononuclear cells of the index patient in comparison with 2 healthy controls (control 1 and 2). Shown is one representative experiment run in triplicates. The error bars indicate SD. Elisabeth Schuh et al. Neurol Neuroimmunol Neuroinflamm 2015;2:e55 © 2014 American Academy of Neurology