Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
Alessandra PennisiAgnès RötigCharles-Joris RouxRaphaël LévyMarco HennekeJutta GärtnerPelin Teke KisaFatma Ceren SariogluUluç YişLaura L KonczalDeepika D BurkardtSulin WuPauline GaignardClaude BesmondLaurence HubertMarlène RioGiulia BarciaArnold MunnichNathalie BoddaertManuel SchiffPublished in: Journal of medical genetics (2020)
We suggest that similar to RNASET2, PNPT1 be searched for in the setting of cystic leukoencephalopathy. These findings are in line with activation of type I interferon response observed in AGS, PNPT1 and RNASET2 deficiencies, suggesting a common pathophysiological pathway and linking mitochondrial diseases, interferonopathies and immune dysregulations.