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Psychopathology and Personality Traits in Patients with Treated Wilson Disease Grouped According to Gene Mutations
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Internal Medicine.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Internal Medicine.
2008 (English)In: Upsala Journal of Medical Sciences, ISSN 0300-9734, E-ISSN 2000-1967, Vol. 113, no 1, 79-94 p.Article in journal (Refereed) Published
Abstract [en]

Wilson disease (WD) is a recessively inherited copper storage disorder   mainly affecting liver and brain. Genotype/phenotype correlations have   been reported but as yet not regarding psychic symptoms. Our aim was to   investigate if a correlation might exist between genotype and phenotype   concerning psychopathology and/or personality traits in patients with treated WD. Nine homozygous and three compound heterozygous Swedish patients were retrospectively investigated, representing four different   mutation settings. Psychopathological symptoms were studied using the Comprehensive Psychopathological Rating Scale (CPRS), personality   traits using the Karo lin ska Scales of Personality (KSP) and mutations   were analyzed by manifold sequencing. Psychopathological symptoms: Patients with the Trp779Stop mutation had the lowest scores on the   total CPRS, due to less pronounced reported CPRS items, as compared to the other three groups of patients. Compound heterozygotes for the His1069Gln/Arg1319Stop mutation showed the highest total CPRS scores.   Personality traits: Patients homozygous for the Trp779Stop and the Thr977Met mutations had high scores on Psychopathy related scales whereas patients with His1069Gln/Arg1319Stop mutations had the lowest scores on these scales. Serum ceruloplasmin levels were undetectable in   all patients with the Trp779Stop and Thr977Met mutations. The results show a trend towards a genotype/phenotype correlation regarding psychopathological symptoms and personality traits in treated patients with WD. If replicable, these results might contribute to the elucidation of the possible clinical importance of functionally   deleterious gene mutations in WD psychopathology and personality traits.

Place, publisher, year, edition, pages
2008. Vol. 113, no 1, 79-94 p.
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-95657ISI: 000263415100007OAI: oai:DiVA.org:uu-95657DiVA: diva2:169960
Available from: 2007-04-05 Created: 2007-04-05 Last updated: 2017-12-14Bibliographically approved
In thesis
1. Genetical and Clinical Studies in Wilson's Disease
Open this publication in new window or tab >>Genetical and Clinical Studies in Wilson's Disease
2007 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Wilson’s disease is a rare inborn error of metabolism caused by a defect in ATP7B, a protein necessary for proper copper excretion into bile. It is characterised by copper accumulation with hepatic and central nervous system dysfunction.

We investigated 24 Swedish families with Wilson’s disease by sequencing the entire coding sequence using a new technique called manifold sequencing. Disease causing mutations were found in 44 out of 48 alleles.

From data obtained in the first study, the two most common mutations (C3207A and C2930T) were sought in 2640 anonymous DNA samples from a Swedish population, using a pooling strategy and solid-phase minisequencing. Four C3207A and one C2930T were found. From the number of C3207A, a prevalence of Wilson’s disease in Sweden of about 1 in 110,000 could be estimated.

Four groups with three patients each had four different genotypes concerning mutations in ATP7B. The patients’ psychopathological symptoms were investigated, using the Karolinska Scales of Personality rating (KSP) and Comprehensive Psychopathological Rating Scale (CPRS). A trend towards lower CPRS scores was seen in the groups with mutations known to render ATP7B completely without activity.

Using 61Cu liver PET in patients homozygous for mutations in ATP7B, heterozygotes, normal individuals and two patients with alcoholic liver cirrhosis, significantly slower uptake was seen in the homozygotes as compared to the heterozygotes and normal individuals. The patients with cirrhosis had values in between. This implies that 61Cu liver PET might be used as an additional rapid and little invasive diagnostic tool in Wilson’s disease.

In a retrospectively studied cohort consisting of 363 patients followed in Sweden and the UK, nine cases of aggressive intra-abdominal malignancies were seen, which is more than expected. Caution should be taken in the follow-up of Wilson’s disease patients.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2007. 46 p.
Series
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 246
Keyword
Internal medicine, copper radioisotopes, DNA sequence analyses, genotype, hepatolenticular degeneration, neoplasms, phenotype, positron-emission tomography, psychopathology, Invärtesmedicin
Identifiers
urn:nbn:se:uu:diva-7779 (URN)978-91-554-6845-3 (ISBN)
Public defence
2007-04-26, Robergsalen, Entrance 40, Akademiska sjukhuset, Uppsala, 09:15
Opponent
Supervisors
Available from: 2007-04-05 Created: 2007-04-05Bibliographically approved

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