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. 2024 Mar 26;14(1):7109.
doi: 10.1038/s41598-024-57779-4.

Darier disease is associated with neurodegenerative disorders and epilepsy

Philip Curman  1   2   3 , William Jebril  1   2 , Henrik Larsson  3   4 , Etty Bachar-Wikstrom  1 , Martin Cederlöf  3   4 , Jakob D Wikstrom  5   6
Affiliations

Darier disease is associated with neurodegenerative disorders and epilepsy

Philip Curman et al. Sci Rep. .

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.

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Conflict of interest statement

Henrik Larsson reports receiving grants from Shire Pharmaceuticals; personal fees from and serving as a speaker for Medice, Shire/Takeda Pharmaceuticals and Evolan Pharma AB; and sponsorship for a conference on attention-deficit/hyperactivity disorder from Shire/Takeda Pharmaceuticals and Evolan Pharma AB, all outside the submitted work. Henrik Larsson is editor-in-chief of JCPP Advances. The other authors have no competing interests.

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