| 1 | Neurosci. Res. 2001 Jun 40: 105-13 |
|---|---|
| PMID | 11377748 |
| Title | Molecular genetics of bipolar disorder. |
| Abstract | Alteration of monoaminergic neurotransmission is implicated in the pathophysiology of bipolar disorder (manic-depressive illness). Candidate genes participating in monoaminergic neurotransmission, especially serotonin transporter and monoamine oxidase A, may be associated with bipolar disorder. And the regulating regions of these genes and the molecules participating in intracellular signal transduction are now under investigation. To date, 13 whole genome positional cloning studies have been performed and many candidate loci identified. Using patients from a pedigree in which schizophrenia, depression or bipolar disorder have been linked with a balanced translocation at 1 and 11, candidate pathogenetic genes were cloned as DISC1 (disrupted in schizophrenia-1) and DISC2. Recently, pathogenetic mutations have been identified in two genetic diseases frequently co-morbid with mood disorder; WFS1 for Wolfram syndrome and ATP2A2 (SERCA2) for Darier's disease. Transmission of bipolar disorder may be characterized by anticipation and parent-of-origin effect, and extended CTG repeat at SEF2-1B gene was identified from a bipolar patient. However, its pathogenetic role was not supported by subsequent studies. Association of bipolar disorder with mitochondrial DNA has also been suggested. The role of genomic imprinting is also possible because linkage to 18p11 is limited to paternally transmitted pedigrees. These results warrant further study of molecular genetics of bipolar disorder. |
| SCZ Keywords | schizophrenia |
| 2 | Kaohsiung J. Med. Sci. 2002 Dec 18: 622-6 |
| PMID | 12670038 |
| Title | Darier's disease associated with bipolar affective disorder: a case report. |
| Abstract | Darier's disease, also known as keratosis follicularis, is an uncommon autosomal dominant disorder that may also occur as a sporadic mutation. It is characterized by multiple eruptions of hyperkeratotic or crusted papules at seborrheic areas with histologic acantholysis and dyskeratosis. It usually begins in the first or second decade of life and is equally prevalent in men and women. Darier's disease is caused by mutations in the ATP2A2 gene, which maps to chromosome 12q23-q24.1 and encodes the sarcoplasmic/endoplasmic reticulum calcium ATPase (SERCA2). The co-occurrence of various neurologic and psychiatric diseases with Darier's disease has been reported, including mood disorders, epilepsy, mental retardation, slowly progressive encephalopathy, and schizophrenia. Linkage studies using the association between these disorders and Darier's disease to determine the gene locus of these psychiatric disorders inferred the presence of a bipolar susceptibility gene on chromosome 12q23-q24.1 in the region of the Darier's disease gene (DAR). We report a case of Darier's disease of more than 40 years' duration and bipolar I disorder of 30 years' duration in a 52-year-old man, and provide a brief review of the literature. |
| SCZ Keywords | schizophrenia |
| 3 | Encephale 2009 Feb 35: 32-5 |
| PMID | 19250991 |
| Title | [Darier's disease: an evaluation of its neuropsychiatric component]. |
| Abstract | Darrier's disease is a rare genodermatosis with a dominant autosomic penetrating variable transmission. The association between Darier's disease and neuropsychiatric disorders has been reported since 1996. Moreover, associations with mental retardation, schizophrenia, mood disorders and suicide have been reported. The discovery in 1999 of the ATP2A2 gene of Darier's disease, localised on chromosome 12, allowed significant advances notably in understanding the pathogenicity of these symptoms. In this article, we present the preliminary results of a clinical and genetic study of eight Tunisian families, involving dermatologists, psychiatrists and geneticians. Eight patients with Darier's disease and their first degree relatives were included in the study after they had given their written consent. Thirty-five subjects were examined, 23 of them had Darier's disease. All patients were submitted to a complete clinical examination; notably dermatological screening, genetic inquiry and blood tests for haplotype analysis. Only 13 of them underwent a psychiatric examination. The psychiatric examination was carried out only in 13 patients with Darier's disease, who revealed neuropsychiatric symptoms with a frequency of 61.1% (8/13). Two patients presented mild mental retardation; six patients had mood disorders, three of them belonged to the same family (two had recurrent depression, four belonged to the bipolar spectrum [2 bipolar disorder type 2, 2 cyclothymia]). The coexpression of the two distinct phenotypes (Darier's disease and bipolar disease), within the same three members' of the family of our study, suggests the existence of a genetic linkage between the two diseases, as has been reported in the literature. |
| SCZ Keywords | schizophrenia |
| 4 | Case Rep Pediatr 2014 -1 2014: 831398 |
| PMID | 25258690 |
| Title | Cooccurrence of Darier's Disease and Epilepsy: A Pediatric Case Report and Review of the Literature. |
| Abstract | Darier's disease is a skin disorder characterized by multiple eruptions of hyperkeratosis or crusted papules at seborrheic areas with histologic acantholysis and dyskeratosis. It is caused by mutations in a single gene, being ATP2A2 and that is expressed in the skin and brain. The cooccurrence of various neurologic and psychiatric diseases with Darier's disease has been reported frequently in literature. They include mood disorders, epilepsy, encephalopathy, and schizophrenia. In this study, we report a pediatric case with the cooccurrence of Darier's disease and epilepsy. We also revised current English literature on this topic. |
| SCZ Keywords | schizophrenia |
| 5 | Bipolar Disord 2015 May 17: 340-4 |
| PMID | 25213221 |
| Title | The association between Darier disease, bipolar disorder, and schizophrenia revisited: a population-based family study. |
| Abstract | Darier disease is an autosomal dominant skin disorder caused by mutations in the ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2) gene and previously reported to cosegregate with bipolar disorder and schizophrenia in occasional pedigrees. It is, however, unknown whether these associations exist also in the general population, and the objective of this study was to examine this question. We compared a national sample of individuals with Darier disease and their first-degree relatives with matched unexposed individuals from the general population and their first-degree relatives, respectively. To examine risks for bipolar disorder and schizophrenia, risk ratios and 95% confidence intervals (CIs) were estimated using conditional logistic regressions. Individuals with Darier disease had a 4.3 times higher risk of being diagnosed with bipolar disorder (95% CI: 2.6-7.3) and a 2.3 times higher risk of being diagnosed with schizophrenia (95% CI: 1.1-5.2) than matched individuals from the general population. Relatives of individuals with Darier disease had a 1.6 times higher risk of having bipolar disorder (95% CI: 1.1-2.5) than relatives of matched individuals from the general population, but no increased risk of schizophrenia (risk ratio = 0.8, 95% CI: 0.4-1.8). The association between Darier disease and bipolar disorder is manifest also in the population, and our data suggest that genetic variability within the ATP2A2 gene that causes Darier disease also confers susceptibility for bipolar disorder. The Darier-causing mutations merit additional attention in molecular genetic research on bipolar disorder. |
| SCZ Keywords | schizophrenia |
| 6 | Psychiatry Clin. Neurosci. 2016 Apr -1: -1 |
| PMID | 27106560 |
| Title | Loss of function mutations in ATP2A2 and psychoses: A case report and literature survey. |
| Abstract | Though genetic factors play a major role in the pathophysiology of psychoses including bipolar disorder and schizophrenia, lack of well-established causative genetic mutations hampers their neurobiological studies. Darier's disease, an autosomal dominant skin disorder caused by mutations of ATP2A2 on chromosome 12q23-24.1, encoding sarco/endoplasmic reticulum calcium transporting ATPase 2 (SERCA2), reportedly cosegregates with bipolar disorder. A recent genome wide association study showed an association of schizophrenia with ATP2A2. We sequenced all coding regions of ATP2A2 in a newly identified patient with Darier's disease and bipolar disorder. In addition, we performed a literature survey to examine whether likely gene disrupting (LGD) mutations are related to psychoses. We identified a rare heterozygous mutation, c.1288-6A>G, at the 3' end of intron 10 in the patient. A minigene splicing assay showed that this mutation introduces a new splice site causing a frameshift and premature stop codon. A literature survey for case reports of patients with Darier's disease and psychoses revealed that the rate of LGD mutations causing frameshift, altered splicing, gain of stop codon, or loss of start codon, was significantly higher among the mutations harbored by these cases (9 of 11) than that of ATP2A2 mutations for which comorbidity of psychosis was not reported (107 of 237, p?=?0.03). The only non-LGD mutation (p.C560R) reported in patients with Darier's disease and bipolar disorder caused decreased ATP2A2 protein expression. These results suggest that psychoses in Darier's disease may be caused by a pleiotropic effect of loss-of-function mutations of ATP2A2. |
| SCZ Keywords | schizophrenia |
| 7 | Acta Derm. Venereol. 2016 Mar -1: -1 |
| PMID | 27025976 |
| Title | Darier's Disease Complicated by Schizophrenia Caused by a Novel ATP2A2 Mutation. |
| Abstract | is missing (Short communication). |
| SCZ Keywords | schizophrenia |