摘要:

We performed a simple segregation analysis of panic disorder, using 30 two- and three-generation pedigrees. Pedigrees were singly ascertained, either through the Epidemiologic Catchment Area study (seven probands), or as a consecutive series from an anxiety disorders clinic (23 probands). All probands were required to meet DSM-III panic disorder criteria, without comorbid major depression. Relatives (n= 189) were required to meet DSM-III criteria for panic disorder, with or without comorbid major depression. We fitted a single major dominant and a single major recessive model to the data, allowing for an age-of-onset distribution. Under the dominant model, we obtained the following parameter estimates: gene frequency = 0.01; (lifetime) susceptibility for gene carriers = 0.5; susceptibility for non-gene carriers = 0.01. Under the recessive model, we obtained the following parameter estimates: gene frequency = 0.2; susceptibility for gene carriers = 0.7; susceptibility for non-gene carriers = 0.01. The best-fitting dominant and best-fitting recessive models had equally high likelihoods. Discrepancies between our results and earlier reports are discussed, as are implications of these results for linkage analyses of panic disorder.

ISSN:0955-8829    

出版商:OVID    

年代:1993

数据来源: OVID

摘要:

Family studies have demonstrated that genetic factors are involved in panic and other anxiety disorders. In order to investigate these factors, 25 probands with panic disorder (PD) were compared with three other groups (age and sex matched): patients with generalized anxiety disorder (GAD), major depressive disorder (MDD), and normal subjects. About 75% of all first-degree relatives were personally interviewed. Age-corrected morbidity risk (MR) was calculated according to the Stromgren method. The distribution of psychopathology in first-degree relatives showed significantly greater MR for PD in the relatives of PD probands in comparison with all groups. For all anxiety disorders and various psychiatric disorders, relatives of PD patients also showed greater MR than controls. The frequency of GAD and MDD in relatives did not discriminate between the groups. The results of this study validate PD as a separate illness from GAD, the differentiation of PD from MDD, and support the hypothesis of a genetic contribution to the predisposition of PD.

ISSN:0955-8829    

出版商:OVID    

年代:1993

数据来源: OVID

摘要:

The case for a linkage between chromosome Xq27–28 and a bipolar disorder spectrum has prevailed as the most thoroughly documented in psychiatric genetics. The only reports of molecular genetic linkage to the region are obtained with the F9 gene. It is questionable whether these findings reflect linkage to the more extensively studied color blindness-G6PD area. The impact of ethnic differences has been repeatedly suggested as an explanatory factor for divergent findings with respect to the region. The population in the present study derives from a genetically isolated area. To further reduce the risk of heterogeneity, the analysis was restricted to a single extended pedigree. Investigations based on a thorough genealogical exploration revealed no suggestion of father-to-son transmission. Operationally defined criteria were applied to exclude subjects who might introduce bilineal gene flow. Diagnoses were made using translations of appropriate parts of SADS-L and SCID with the aid of family history data and systematically collected records. Using two markers, F9 and DXS548, and with a diagnostic spectrum identical to that used in the studies reporting linkage to the F9 gene, we could exclude (lod score < −2) the chromosomal region between the two markers as well as the region extending 10 cM from F9 towards the centromere and 27 cM towards the telomere.

ISSN:0955-8829    

出版商:OVID    

年代:1993

数据来源: OVID

摘要:

The dopamine system is a preferred object of biological research in schizophrenia. The evolving delineation of distinct multiple human dopamine receptors and the increasing availability of polymorphic DN A probes from the receptor loci allows to test for the involvement of the dopamine receptor genes in the etiology of the disease. Sixty schizophrenic patients and 60 control subjects were examined for association of genetic polymorphisms at the Dl, D2, D3 and D4 dopamine receptor gene loci. No significant differences of genotype or allele frequencies could be found between patients and controls. Our findings do not support the hypothesis that a single mutant form of one of the dopamine receptor genes under study is commonly involved in the etiology of schizophrenia. In addition, no significant differences in the prevalence of a glycine to serine substitution at position 9 in the extracellular N-terminal part of the dopamine D3 receptor gene were observed between schizophrenics and controls. Therefore, this substitution can be regarded as a protein variation with no major effect on susceptibility to schizophrenia.

ISSN:0955-8829    

出版商:OVID    

年代:1993

数据来源: OVID

摘要:

Sixty-eight consecutive patients (51 male, 17 female) who satisfied DSM-III criteria for Gilles de la Tourette syndrome had blood taken for chromosomal analysis. Three individuals exhibited abnormalities or variations: an XYY chromosome, a heterochromatin of chromosome 1, and heterochromatin of chromosome 9, respectively. The remaining 65 patients showed apparently normal karyotypes without any striking heteromorphisms. The literature on chromosomal abnormalities in Gilles de la Tourette syndrome and associated disorders is reviewed.

ISSN:0955-8829    

出版商:OVID    

年代:1993

数据来源: OVID

摘要:

An association between a polymorphic ApaLI site within the porphobilinogen deaminase (PBGD) gene and schizophrenia has been reported recently. In order to replicate this finding we examined the ApaLI RFLP, which is located in intron 1 of the PBGD gene, in 93 unrelated patients who met the DSM-III-R criteria for schizophrenia versus 74 unrelated controls. There were no significant differences between the groups in allele frequencies or genotype counts. Furthermore, a linkage study was performed in 14 families of patients with schizophrenia. No evidence for linkage was obtained for the ApaLI polymorphism. In addition, using multipoint linkage analysis with two flanking CA repeats, we were able to exclude linkage for a region of about 20 cM surrounding the PBGD locus. Our data from both the association and the linkage study do not support a widespread or consistent involvement of the PBGD gene in the etiology of schizophrenia.

ISSN:0955-8829    

出版商:OVID    

年代:1993

数据来源: OVID

摘要:

The objective of the study was to demonstrate that Huntington's disease (HD) may present without chorea. The patient was at 50% risk of HD. He first presented at 30 years with complaints of depressed mood, suicidal thoughts and failing memory, but without chorea. He represented at 40, 42, 44 and 47 years, with a similar picture. There was a repeated failure to make the diagnosis. Post-suicide autopsy found changes in the brain consistent with the diagnosis of Huntington's disease. It was concluded that HD may present without chorea. While care must be taken not to make a false-positive diagnosis and unnecessarily distress patients and their offspring, this danger must be balanced against the damage which can follow a false-negative mistake.

ISSN:0955-8829    

出版商:OVID    

年代:1993

数据来源: OVID