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G Stöber

Publications and source records attributed to G Stöber.

At least 55 records · Page 3Linked to original sources
PubMed1998

[Cataphasia: a by formal thought disorders and speech characteristics distinguished psychosis of the schizophrenic domain].

Cataphasia, one form of Leonard's unsystematic schizophrenias, shows a polymorphous, but nevertheless specific symptomatology. The key features of the psychopathology of this condition are formal thought and speech disorders. Hallucinations and delusional ideas can be present, but they are incidental and do not determine the syndrome. The characteristic elements of this thought disorder are logical derailment, paralogic thinking and, especially in the excited form, incoherence with contaminations up to "word salad". The speech shows strange verbalizations, paragrammatisms, agrammatisms, and occasionally neologisms. The course mostly fluctuates with acute attacks and incomplete remissions leading to residual states of varying degrees of severity determined by a flattened and somewhat euphoric affect. Usually the disorder appears in an excited or inhibited form. In the latter case, thought disorder is difficult to recognize. Sometimes it can only be stated by the facial expression, which reveals an internal emptiness and dullness, and a tendency to state fixedly at the examiner. Psychopharmacotherapy can diminish accompanying delusional ideas or hallucinations, but does not have much influences on the core syndrome of formal thought and speech disorder.

Adult↗
PubMed1998

Distribution of the B33 CTG repeat polymorphism in a subtype of schizophrenia.

Clinical evidence for a dominant mode of inheritance and anticipation in periodic catatonia, a distinct subtype of schizophrenia, suggests that trinucleotide repeat expansions may be involved in the aetiology of this disorder. Since genes with triplet repeats are putative canditates for causing schizophrenia, we have analysed the polymorphic B33 CTG repeat locus on chromosome 3 in 45 patients with periodic catatonia and 43 control subjects. The B33 CTG repeat locus was highly polymorphic, but all alleles in both the patient and control groups had repeat lengths within the normal range. We conclude that susceptibility to periodic catatonia is not influenced by variation at the B33 CTG repeat locus. Nevertheless, that periodic catatonia displays dominant inheritance and anticipation, characteristic of genetic disorders involving trinucleotide repeats, justifies further screening for triplet repeat expansions in this illness.

Adult↗
PubMed1998

Susceptibility for schizophrenia is not influenced by a functional insertion/deletion variant in the promoter of the serotonin transporter gene.

A possible dysregulation of serotonergic neurotransmission has been implicated in the aetiology of schizophrenic psychoses. In the present study we analysed allelic and genotypic variations of a recently described functional polymorphic region in the promoter of the human serotonin transporter gene (5-HTTLPR) and a variable tandem repeat (VNTR) in intron 2 of the 5-HTT gene. We investigated 413 unrelated individuals, 180 schizophrenic patients and 233 blood donors as controls. With regard to the 5-HTTLPR, both the schizophrenic and the control group did not significantly differ between genotype frequencies (chi2, p = 0.920) and allele frequencies (chi2, p = 0.836). The odds ratio for subjects with schizophrenia who were homozygous for the short allele was 1.04 (95% CI 0.59-1.84). No evidence of allelic association to specific schizophrenia subtypes was found. The 5-HTT associated VNTR also showed no significant differences between either the allelic or the genotypic distributions. Haplotype analysis revealed a significant overall linkage disequilibrium at a level of p = 0.00004. Our findings indicate that both polymorphisms are unlikely to play a substantial role in the genetic predisposition to schizophrenic disorders.

Adolescent↗
PubMed1998

Insertion/deletion variant (-141C Ins/Del) in the 5' regulatory region of the dopamine D2 receptor gene: lack of association with schizophrenia and bipolar affective disorder. Short communication.

A possible dysregulation of dopaminergic neurotransmission has been implicated in the aetiology of schizophrenic psychoses, in particular of paranoid-hallucinatory states, and of the manic episodes of bipolar affective disorder. In the present study we analysed allelic and genotypic variations of a recently described functional deletion/insertion variant (-141C Ins/Del) in the 5' flanking region of the human dopamine D2 receptor gene. We investigated a total of 620 unrelated individuals, comprising 260 schizophrenic patients, 70 patients with bipolar affective disorder, and 290 population controls. Analysis of the -141C Ins/Del variant revealed that the schizophrenic, bipolar affective and control groups did not differ significantly regarding genotype frequencies and allele frequencies. No evidence of an allelic association with either a family history of schizophrenic psychosis or a diagnosis of schizophrenia of the paranoid type (according to ICD 10) was found. Our findings indicate that the -141C Del variant in the 5' flanking region of the human dopamine D2 receptor gene is unlikely to play a substantial role in genetic predisposition to major psychiatric disorders in Caucasians.

Adult↗
PubMed1998

Cloning and functional characterization of the human norepinephrine transporter gene promoter.

The norepinephrine transporter (NET) plays a critical role in brain norepinephrine homeostasis and is a target for antidepressants and drugs of abuse. We have analyzed the 5'-flanking regulatory region of the human NET gene (SLC6A2). Primer extension and 5' RACE revealed a single transcription start site, alternative splicing of exon 1 due to alternate splice donor usage, and a variable splice acceptor of intron 1. A TA-rich motif 35 bp upstream of the transcription start and several potential binding sites for transcription factors including a cAMP response element (CRE)-like motif are present in the 5'-flanking region. A 4.0-kb fragment, which had been fused to the luciferase reporter gene and transiently expressed in a NET+ cell line, displayed both constitutive and inducible promoter activity. Functional analysis by serial deletions revealed several clusters of cell-selective enhancer elements. Our findings indicate that (1) the NET gene promoter is active in NET-expressing cells and the information contained within approximately 4 kb of the 5'-flanking sequence is required to confer its cell-selective expression, (2) the expression of NET is regulated by a combination of positive cis-acting elements operating through a basal promoter defined by a TA-rich motif, and (3) the promoter responds to cAMP-dependent induction. Fusion of the human NET gene promoter to selected genes will facilitate their cell-selective expression in gene transfer strategies.

Animals↗
PubMed1998

Cycloid psychoses predominate in severe postpartum psychiatric disorders.

BACKGROUND: The nosological status of postpartum psychoses has remained controversial because of their often 'atypical' symptomatology. A polydiagnostic approach may further clarify this issue. METHODS: In a retrospective study, we applied the ICD-10 and Leonhard's classification to 39 patients with severe postpartum psychiatric disorders. The patients were personally reexamined on average 12.5 years (6-26 years) after the onset of the illness. RESULTS: An acute onset and a polymorphous psychotic symptomatology with rapid changes characterized the majority of our cases. Unipolar depressive disorders (28%) and acute polymorphous psychotic disorders (21%) represented the largest proportions within the ICD-10-classification. Applying Leonhard's classification, over half the patients (54%) suffered from a cycloid psychosis. Among cycloid psychoses, motility psychoses clearly predominated. Schizophrenias occurred rarely (10%) according to both classifications. LIMITATIONS: Due to the unknown prevalence of the various diagnoses among women of child-bearing age, it is impossible to statistically infer a specific association between childbirth and a distinct diagnosis from our data. CONCLUSIONS: Our findings suggest that cycloid psychoses, in particular motility psychoses, account for the majority of postpartum psychoses, and do not support the hypothesis of a nosological independence of postpartum psychoses.

Adult↗
PubMed1998

Enhancement of serotonin transporter function by tumor necrosis factor alpha but not by interleukin-6.

Serotonin (5-HT) is a prime candidate for studies of the interaction between the nervous and immune systems, since it is both an important neurotransmitter and released at high concentrations at sites of inflammation. Serotonergic neurotransmission is regulated by the 5-HT transporter (5-HTT), which determines the magnitude and duration of serotonergic responses. Since tumor necrosis factor alpha (TNF-alpha) and interleukin-6 are two inflammatory mediators that are central to the initiation of inflammation, we studied the impact of these cytokines on the 5-HTT. As model system we used a cell line which constitutively expresses the 5-HTT, namely the choriocarcinoma cell line JAR. We found that TNF-alpha enhances 5-HT uptake, with a doubling of the maximal velocity of uptake. Interleukin-6, on the other hand, had no effect. We thus show for the first time that the cytokine TNF-alpha modulates 5-HTT function. Furthermore, we propose a molecular mechanism for this effect. Since both 5-HT and TNF-alpha are elevated at sites of inflammation, TNF-alpha may act to renormalize 5-HT levels by way of its effect on the 5-HTT. This is especially important for the central nervous system, where the TNF-alpha effect shown here can aid in preventing disturbances of serotonergic neurotransmission.

Carrier Proteins↗
PubMed1998

Parent-of-origin effect and evidence for differential transmission in periodic catatonia.

In a family study involving 83 probands with periodic catatonia a subtype of DSM IIIR schizophrenia, we reported an age-specific morbidity risk of 26.9% in first-degree relatives with homotypical psychoses and genetic anticipation indicating a possible major gene effect. Paternal transmission was associated with a trend for a younger age at onset in probands compared to that observed in the case of maternal transmission (P = 0.099). If this can be confirmed in a larger sample and then replicated, there would be evidence for the occurrence of a parent-of-origin effect. Such an observation may indicate that a paternally imprinted locus acts on periodic catatonia. Among the non-genetic mechanisms that may modify the penetrance of the disease, paternal affection did lead to a decrease in male offspring (P = 0.007) and maternal affection showed an increased frequency of non-affected male offspring (P = 0.021). We therefore propose that parent-of-origin effects as well as prenatal mortality and psychosocial factors need further investigation in the periodic catatonia subtype of schizophrenia.

Adolescent↗
PubMed1997

[The importance of differential analysis of formal thought disorders in confusion psychosis and cataphasia. Incoherence of thematic choice and incoherence with logical and linguistic errors].

Formal thought disorders are usually regarded as a central symptom of schizophrenic psychoses, but nevertheless as diagnostically non-specific. Karl Leonhard, therefore, differentiated in his classification of endogenous psychoses between a whole lot of diagnostically specific types of formal thought disorders. He described two psychoses, of which formal thought disorder is the main psychopathological feature, i.e. confusion psychosis and cataphasia. By means of an analysis of tape-recorded utterances of patients with such psychoses we demonstrate the phenomenological differentiation of the distinct types of thought disorder in these psychoses. In confusion psychosis the disturbance concerns the thematic organisation and target-oriented direction of the train of thought. Characteristically, an "incoherence of thematic choice" results, reflecting a disturbance on the level of organisation of discourse. The concepts, ideas and themes itself are organised in a logically correct manner and are comprehensible. The thought disorder in cataphasia, however, shows severe logical faults in the connection of concepts and ideas, as a result of which single themes and ideas become a logical and incomprehensible. Moreover, cataphasic thought disorder goes beyond the level of discourse organisation and extends to disturbances of linguistic functions including mistakes on a semantical and syntactic level. These observations correspond well with the widely accepted assumption of a modular organisation of cognitive and linguistic processes. The thought disorder in prognostically unfavourable cataphasia concerns "basal" logical, semantic and syntactic systems, which remain uninfluenced in the prognostically favourable confusion psychosis. In the latter, therefore, the disorder is restricted to the higher functions of organisation of discourse.

Humans↗
PubMed1997

First-trimester maternal gestational infection and cycloid psychosis.

Using a structured interview, the mothers of patients with cycloid psychosis, manic depression and controls (40 mothers in each case) were investigated in order to assess the occurrence of maternal gestational infection and other obstetric complications during pregnancy with the affected child. The cycloid psychoses with low heritability and a good long-term prognosis were found to be significantly associated with first-trimester respiratory infection (i.e. influenza and febrile cold). Furthermore, maternal infection seems to predict an early onset in cycloids. In manic depression, we failed to identify a significant link with maternal gestational infection or other obstetric complications. These findings are discussed in the light of our previous reports of an excess of maternal gestational infections during the second trimester in chronic schizophrenics. Our results suggest that the exogenously induced disturbances of fetal brain maturation during the first trimester of gestation caused by maternal respiratory infection via live virus or disturbed maternal immune response are involved in the aetiology of cycloid psychoses.

Adult↗
PubMed1997

Obstetric complications and age at onset in schizophrenia: an international collaborative meta-analysis of individual patient data.

OBJECTIVE: An excess of obstetric complications in the histories of schizophrenic patients is a well-replicated finding, but less consistent results have been found concerning the relationships between obstetric complications and family history of schizophrenia, age at onset of schizophrenia, and gender. Small sample size limited the power of previous studies that attempted to assess such relationships. The aim of this study was to use data on individual patients from all available studies to examine the links between a history of obstetric complications and family history of schizophrenia, age at onset, and gender. METHOD: Raw data from 854 schizophrenic patients concerning history of obstetric complications rated according to the Lewis and Murray scale were obtained from 11 different research groups. Weighted average estimates were calculated with the use of regression techniques. RESULTS: A significant association was found between age at onset of schizophrenia and obstetric complications: the earlier the age at onset, the more likely the history of obstetric complications. Subjects with onset of schizophrenia before age 22 were 2.7 times more likely than those with onset at a later age to have had a history of abnormal presentation at birth and 10 times more likely to have had a history of complicated Cesarean birth. No association was found between obstetric complications and family history of schizophrenia or gender. CONCLUSIONS: The association between obstetric complications and early age at onset of schizophrenia indicates that the pathophysiology of early-onset schizophrenia involves neurodevelopmental impairment.

Adolescent↗
PubMed1996

Is computerized tomography ventricular abnormality related to cycloid psychosis?

Twenty-eight psychiatric patients with computerized tomography (CT) findings of ventricular abnormality most likely to result from prenatal/perinatal lesions (VA group) were compared to 28 sex- and age-matched psychiatric patients with normal neuroradiological findings (NCT group). The neuroradiological rater was blind to clinical psychiatric diagnoses and, vice versa, clinical diagnoses were established without knowledge of neuroradiological findings. A polydiagnostic approach (DSM-III-R, ICD-10, Leonhard Classification) was used for psychiatric diagnostic workup. Significantly more patients with cycloid psychoses (according to Leonhard's original description) were found in VA as compared to NCT patients. According to DSM-III-R and ICD-10, VA and NCT groups did not differ significantly regarding diagnostic distribution. Ventricular abnormalities that may reflect sequels of birth complications and/or adverse events during pregnancy may constitute one of the risk factors for developing cycloid psychosis as originally described by Leonhard.

Adult↗
PubMed1996

Systematic search for variation in the human norepinephrine transporter gene: identification of five naturally occurring missense mutations and study of association with major psychiatric disorders.

The complete coding region of the norepinephrine transporter (NET) gene was systematically screened for genetic variants in 137 unrelated individuals (including 46 probands with bipolar affective disorder and 45 schizophrenic probands, as well as 46 blood donors) using single-strand conformation analysis. We identified 13 DNA sequence variants, among them five missense substitutions. The missense substitutions Val69Ile, Thr99Ile, Val245Ile, Val449Ile, and Gly478Ser are located at putative transmembrane domains (TMD) 1, 2, 4, 9, and 10, respectively. The Thr99Ile substitution is at the 5th position of the putative leucine-zipper in TMD2. In a case-control study distribution of missense substitutions was found to be similar in 103 patients with bipolar affective disorder, in 228 schizophrenia patients and in 187 controls, indicating that presence of these variants is not causally related to major psychiatric diseases. The detection of a highly polymorphic silent 1287G/A polymorphism was utilized to demonstrate biallelic expression of the NET in adult human brain.

Adult↗
PubMed1996

Systematic screening for mutations in the 5'-regulatory region of the human dopamine D1 receptor (DRD1) gene in patients with schizophrenia and bipolar affective disorder.

A possible dysregulation of dopaminergic neurotransmission has been implicated in a variety of neuropsychiatric diseases. In the present study we systematically searched for the presence of mutations in the 5'-flanking region of the dopamine D1 receptor (DRD1) gene. This region has previously been shown to contain a functional promoter [Minowa et al., 1992: Proc Natl Acad Sci 89:3045-3049; Minowa et al., 1993: J Biol Chem 268:23544-23551]. We investigated 119 unrelated individuals (including 36 schizophrenic patients, 38 bipolar affective patients, and 45 healthy controls) using single-strand conformation analysis (SSCA). Eleven overlapping PCR fragments covered 2,189 bp of DNA sequence. We identified six single base substitutions: -2218T/C, -2102C/A, -2030T/C, -1992G/A, -1251G/C, and -800T/C. None of the mutations was found to be located in regions which have important influence on the level of transcriptional activity. Allele frequencies were similar in patients and controls, indicating that genetic variation in the 5'-regulatory region of the DRD1 gene is unlikely to play a frequent, major role in the genetic predisposition to either schizophrenia or bipolar affective disorder.

Alleles↗
PubMed1996

Genetic heterogeneity in catatonic schizophrenia: a family study.

In family study concentrating on 139 probands with chronic DSM-III-R schizophrenia, catatonic type, 83 probands (41 women, 42 men) met the criteria for periodic catatonia and 56 probands (14 women, 42 men) for systematic catatonia according to the Leonhard classification. The reliability and stability of this subclassification were tested by 2 experienced psychiatrists working independently of each other. Both diagnosticians were kept blind as to the probands' family history. The 139 probands had a total of 543 first-degree relatives. Only those hospitalized for schizophrenia were allocated to the group of afflicted family members. Diagnostic reliability was kappa statistic 0.93 and diagnostic stability during catamnesis reached 97% and kappa of 0.93. Life-table analyses revealed that the age-corrected risks were significantly different in periodic and systematic catatonia. In systematic catatonia mothers had a risk of 6.8%, fathers 2%, and randomly selected sibs 3%. IN periodic catatonia an excess of homologous psychoses was apparent: There was a risk of 33.7% for mothers, 15.4% for fathers, and 24.4% for sibs. The quota of afflicted parents (33 of 161) was higher than that of sibs (26 of 162). In periodic catatonia, 59% of the families were multiple afflicted with pronounced unilineal vertical transmission. In 10% of the families 3 successive generations suffered from the disease and were treated in hospital. The results of the study led to the following hypotheses: Periodic and systematic catatonia are valid subgroups of DSM-III-R schizophrenia. In systematic catatonia heritability is very low. Periodic catatonia is a familial disorder. Homogeneity of familial psychoses and unilineal vertical transmission with anticipation are consistent with a major gene effect. Periodic catatonia seems to be a promising candidate for molecular genetic evaluation.

Adult↗