TY - JOUR AV - public N2 - OBJECTIVE: To study the impact of gender, puberty, and pregnancy on the expression of POLG disease, one of the most common mitochondrial diseases known. METHODS: Clinical, laboratory, and genetic data were collected retrospectively from 155 patients with genetically confirmed POLG disease recruited from seven European countries. We used the available data to study the impact of gender, puberty, and pregnancy on disease onset and deterioration. RESULTS: We found that disease onset early in life was common in both sexes but there was also a second peak in females around the time of puberty. Further, pregnancy had a negative impact with 10 of 14 women (71%) experiencing disease onset or deterioration during pregnancy. INTERPRETATION: Gender clearly influences the expression of POLG disease. While onset very early in life was common in both males and females, puberty in females appeared associated both with disease onset and increased disease activity. Further, both disease onset and deterioration, including seizure aggravation and status epilepticus, appeared to be associated with pregnancy. Thus, whereas disease activity appears maximal early in life with no subsequent peaks in males, both menarche and pregnancy appear associated with disease onset or worsening in females. This suggests that hormonal changes may be a modulating factor. ID - discovery10111024 SP - 2019 UR - https://doi.org/10.1002/acn3.51199 N1 - This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ EP - 2025 A1 - Hikmat, O A1 - Naess, K A1 - Engvall, M A1 - Klingenberg, C A1 - Rasmussen, M A1 - Tallaksen, CME A1 - Samsonsen, C A1 - Brodtkorb, E A1 - Ostergaard, E A1 - de Coo, R A1 - Pias-Peleteiro, L A1 - Isohanni, P A1 - Uusimaa, J A1 - Darin, N A1 - Rahman, S A1 - Bindoff, LA Y1 - 2020/10/09/ TI - The impact of gender, puberty, and pregnancy in patients with POLG disease JF - Annals of Clinical and Translational Neurology VL - 7 IS - 10 ER -