Darier disease is associated with neurodegenerative disorders and epilepsy
Abstract Darier disease (DD) is a rare monogenetic skin disorder with limited data on its potential association with neurological disorders. This study aimed to investigate the association between DD and neurological disorders, specifically Parkinson's disease, dementias, and epilepsy. Using Sw...
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| Format: | Article |
| Language: | English |
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Nature Portfolio
2024-03-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-024-57779-4 |
| _version_ | 1797233517836369920 |
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| author | Philip Curman William Jebril Henrik Larsson Etty Bachar-Wikstrom Martin Cederlöf Jakob D. Wikstrom |
| author_facet | Philip Curman William Jebril Henrik Larsson Etty Bachar-Wikstrom Martin Cederlöf Jakob D. Wikstrom |
| author_sort | Philip Curman |
| collection | DOAJ |
| description | Abstract Darier disease (DD) is a rare monogenetic skin disorder with limited data on its potential association with neurological disorders. This study aimed to investigate the association between DD and neurological disorders, specifically Parkinson's disease, dementias, and epilepsy. Using Swedish national registers in a period spanning between 1977 and 2013, 935 individuals with DD were compared with up to 100 comparison individuals each, randomly selected from the general population based on birth year, sex, and county of residence at the time of the first diagnosis of DD. Individuals with DD had increased risks of being diagnosed with Parkinson's disease (RR 2.1, CI 1.1; 4.4), vascular dementia (RR 2.1, CI 1.0; 4.2), and epilepsy, (RR 2.5, CI 1.8; 3.5). No association of DD with other dementias were detected. This study demonstrates a new association between DD and neurodegenerative disorders and epilepsy, underlining the need for increased awareness, interdisciplinary collaboration, and further research to understand the underlying mechanisms. Early identification and management of neurological complications in DD patients could improve treatment strategies and patient outcomes. The findings also highlight the role of SERCA2 in the pathophysiology of neurological disorders, offering new targets for future research and potentials for novel treatments. |
| first_indexed | 2024-04-24T16:17:26Z |
| format | Article |
| id | doaj.art-48f2e8b8b0ef488e9190c8d554aee31f |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-04-24T16:17:26Z |
| publishDate | 2024-03-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-48f2e8b8b0ef488e9190c8d554aee31f2024-03-31T11:21:17ZengNature PortfolioScientific Reports2045-23222024-03-011411410.1038/s41598-024-57779-4Darier disease is associated with neurodegenerative disorders and epilepsyPhilip Curman0William Jebril1Henrik Larsson2Etty Bachar-Wikstrom3Martin Cederlöf4Jakob D. Wikstrom5Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska InstitutetDermatology and Venereology Division, Department of Medicine (Solna), Karolinska InstitutetDepartment of Medical Epidemiology and Biostatistics, Karolinska InstitutetDermatology and Venereology Division, Department of Medicine (Solna), Karolinska InstitutetDepartment of Medical Epidemiology and Biostatistics, Karolinska InstitutetDermatology and Venereology Division, Department of Medicine (Solna), Karolinska InstitutetAbstract Darier disease (DD) is a rare monogenetic skin disorder with limited data on its potential association with neurological disorders. This study aimed to investigate the association between DD and neurological disorders, specifically Parkinson's disease, dementias, and epilepsy. Using Swedish national registers in a period spanning between 1977 and 2013, 935 individuals with DD were compared with up to 100 comparison individuals each, randomly selected from the general population based on birth year, sex, and county of residence at the time of the first diagnosis of DD. Individuals with DD had increased risks of being diagnosed with Parkinson's disease (RR 2.1, CI 1.1; 4.4), vascular dementia (RR 2.1, CI 1.0; 4.2), and epilepsy, (RR 2.5, CI 1.8; 3.5). No association of DD with other dementias were detected. This study demonstrates a new association between DD and neurodegenerative disorders and epilepsy, underlining the need for increased awareness, interdisciplinary collaboration, and further research to understand the underlying mechanisms. Early identification and management of neurological complications in DD patients could improve treatment strategies and patient outcomes. The findings also highlight the role of SERCA2 in the pathophysiology of neurological disorders, offering new targets for future research and potentials for novel treatments.https://doi.org/10.1038/s41598-024-57779-4 |
| spellingShingle | Philip Curman William Jebril Henrik Larsson Etty Bachar-Wikstrom Martin Cederlöf Jakob D. Wikstrom Darier disease is associated with neurodegenerative disorders and epilepsy Scientific Reports |
| title | Darier disease is associated with neurodegenerative disorders and epilepsy |
| title_full | Darier disease is associated with neurodegenerative disorders and epilepsy |
| title_fullStr | Darier disease is associated with neurodegenerative disorders and epilepsy |
| title_full_unstemmed | Darier disease is associated with neurodegenerative disorders and epilepsy |
| title_short | Darier disease is associated with neurodegenerative disorders and epilepsy |
| title_sort | darier disease is associated with neurodegenerative disorders and epilepsy |
| url | https://doi.org/10.1038/s41598-024-57779-4 |
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