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dc.contributor.authorHikmat, Omar
dc.contributor.authorNaess, Karin
dc.contributor.authorEngvall, Martin
dc.contributor.authorKlingenberg, Claus
dc.contributor.authorRasmussen, Magnhild
dc.contributor.authorTallaksen, Chantal
dc.contributor.authorSamsonsen, Christian
dc.contributor.authorBrodtkorb, Eylert
dc.contributor.authorOstergaard, Elsebet
dc.contributor.authorde Coo, Rene
dc.contributor.authorPias-Peleteiro, Leticia
dc.contributor.authorIsohanni, Pirjo
dc.contributor.authorUusimaa, Johanna
dc.contributor.authorDarin, Niklas
dc.contributor.authorRahman, Shamima
dc.contributor.authorBindoff, Laurence
dc.PublishedAnnals of clinical and translational neurology. 2020, 1-7.
dc.description.abstractObjective 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.en_US
dc.rightsNavngivelse 4.0 Internasjonal*
dc.titleThe impact of gender, puberty, and pregnancy in patients with POLG diseaseen_US
dc.typeJournal articleen_US
dc.typePeer revieweden_US
dc.rights.holderCopyright 2020 The Authorsen_US
dc.source.journalAnnals of clinical and translational neurologyen_US
dc.identifier.citationAnnals of clinical and translational neurology. 2020, 7(10):2019-2025en_US

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