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  • Curman, PhilipKarolinska 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, Sweden (författare)

Darier disease is associated with neurodegenerative disorders and epilepsy

  • Artikel/kapitelEngelska2024

Förlag, utgivningsår, omfång ...

  • Nature Publishing Group,2024
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:oru-112915
  • https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-112915URI
  • https://doi.org/10.1038/s41598-024-57779-4DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:238531956URI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

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  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • 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.
  • 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.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Jebril, WilliamDermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Dermato-Venereology Clinic, Karolinska University Hospital, Eugeniavägen 3, 17164, Stockholm, Sweden (författare)
  • Larsson, Henrik,1975-Örebro universitet,Institutionen för medicinska vetenskaper,Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden(Swepub:oru)hiln (författare)
  • Bachar-Wikstrom, EttyDermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden (författare)
  • Martin, Cederlöf,1980-Örebro universitet,Institutionen för medicinska vetenskaper,Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden(Swepub:oru)mncf (författare)
  • Wikstrom, Jakob D.Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Dermato-Venereology Clinic, Karolinska University Hospital, Eugeniavägen 3, 17164, Stockholm, Sweden (författare)
  • Karolinska InstitutetDermatology 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, Sweden (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Scientific Reports: Nature Publishing Group14:12045-2322

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