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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00004844naa a2200397 4500
001oai:DiVA.org:oru-112915
003SwePub
008240408s2024 | |||||||||||000 ||eng|
009oai:prod.swepub.kib.ki.se:238531956
024a https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-1129152 URI
024a https://doi.org/10.1038/s41598-024-57779-42 DOI
024a http://kipublications.ki.se/Default.aspx?queryparsed=id:2385319562 URI
040 a (SwePub)orud (SwePub)ki
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
100a Curman, Philipu Karolinska Institutet,Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Dermato-Venereology Clinic, Karolinska University Hospital, Eugeniavägen 3, 17164, Stockholm, Sweden; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden4 aut
2451 0a Darier disease is associated with neurodegenerative disorders and epilepsy
264 1b Nature Publishing Group,c 2024
338 a print2 rdacarrier
500 a Open access funding provided by Karolinska Institute. This article was funded by Hudfonden, Swedish Science Council, Svenska Sällskapet för Medicinsk Forskning, Leo foundation, ALF medicin Stockholm, Jeanssons stiftelse, Marcus och Amalia Wallenbergs minnesfond and Tore Nilssons Stiftelse.
520 a 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.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng
700a Jebril, Williamu Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Dermato-Venereology Clinic, Karolinska University Hospital, Eugeniavägen 3, 17164, Stockholm, Sweden4 aut
700a Larsson, Henrik,d 1975-u Örebro universitet,Institutionen för medicinska vetenskaper,Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden4 aut0 (Swepub:oru)hiln
700a Bachar-Wikstrom, Ettyu Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden4 aut
700a Martin, Cederlöf,d 1980-u Örebro universitet,Institutionen för medicinska vetenskaper,Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden4 aut0 (Swepub:oru)mncf
700a Wikstrom, Jakob D.u Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Dermato-Venereology Clinic, Karolinska University Hospital, Eugeniavägen 3, 17164, Stockholm, Sweden4 aut
710a Karolinska Institutetb Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Dermato-Venereology Clinic, Karolinska University Hospital, Eugeniavägen 3, 17164, Stockholm, Sweden; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden4 org
773t Scientific Reportsd : Nature Publishing Groupg 14:1q 14:1x 2045-2322
856u https://doi.org/10.1038/s41598-024-57779-4y Fulltext
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-112915
8564 8u https://doi.org/10.1038/s41598-024-57779-4
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:238531956

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