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The neuropsychiatric phenotype in Darier disease

Gordon-Smith, K., Jones, L. A., Burge, S. M., Munro, C. S., Tavadia, S. and Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610 2010. The neuropsychiatric phenotype in Darier disease. British Journal of Dermatology 163 (3) , pp. 515-522. 10.1111/j.1365-2133.2010.09834.x

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Abstract

Background Darier disease (DD) is a rare autosomal dominantly inherited skin disorder in which co-occurrence of neuropsychiatric abnormalities has been frequently reported by dermatologists. It is caused by mutations in a single gene, ATP2A2, which is expressed in the skin and brain. Objectives To conduct the first systematic investigation of the neuropsychiatric phenotype in DD. Methods One hundred unrelated individuals with DD were assessed using a battery of standardized neuropsychiatric measures. Data were also obtained on a number of clinical features of DD. Results Individuals with DD were found to have high lifetime rates of mood disorders (50%), specifically major depression (30%) and bipolar disorder (4%), and suicide attempts (13%) and suicidal thoughts (31%). These were more common in DD when compared with general population data. The prevalence of epilepsy (3%) in the sample was also higher than the prevalence in the general population. There was no consistent association of specific dermatological features of DD and presence of psychiatric features. Conclusions These findings highlight the need for clinicians to assess and recognize neuropsychiatric symptoms in DD. The results do not suggest that neuropsychiatric symptoms are simply a psychological reaction to having a skin disease, but are consistent with the pleiotropy hypothesis that mutations in the ATP2A2 gene,in addition to causing DD, confer susceptibility to neuropsychiatric features. Further research is needed to investigate genotype–phenotype correlations between the types and ⁄or locations of pathogenic mutations within ATP2A2 and the expressed neuropsychiatric phenotypes.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects: R Medicine > R Medicine (General)
R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Uncontrolled Keywords: Darier disease, neuropsychiatric phenotype
Publisher: Wiley-Blackwell
ISSN: 0007-0963
Last Modified: 20 Oct 2022 07:43
URI: https://orca.cardiff.ac.uk/id/eprint/26146

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