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G Stöber

Publications and source records attributed to G Stöber.

71 records · Page 4Linked to original sources
PubMed1996

Allelic variation of human serotonin transporter gene expression.

Mood, emotion, cognition, and motor functions as well as circadian and neuroendocrine rhythms, including food intake, sleep, and reproductive activity, are modulated by the midbrain raphe serotonin (5-HT) system. By directing the magnitude and duration of postsynaptic responses, carrier-facilitated 5-HT transport into and release from the presynaptic neuron are essential for the fine tuning of serotonergic neurotransmission. Interest in the mechanism of environmental factor-, disease-, and therapy-induced modification of 5-HT transporter (5-HTT) function and its impact on early brain development, event-related synaptic plasticity, and neurodegeneration is widespread and intensifying. We have recently characterized the human and murine 5-HTT genes and performed functional analyses of their 5'-flanking regulatory regions. A tandemly repeated sequence associated with the transcriptional apparatus of the human 5-HTT gene displays a complex secondary structure, represses promoter activity in nonserotonergic neuronal cells, and contains positive regulatory components. We now report a novel polymorphism of this repetitive element and provide evidence for allele-dependent differential 5-HTT promoter activity. Allelic variation in 5-HTT-related functions may play a role in the expression and modulation of complex traits and behavior.

Alleles↗
PubMed1996

[Manneristic catatonia. A psychotropic drug refractory chronic progressive course].

Manneristic catatonia, one form of Leonhard's systematic schizophrenias, is illustrated in nine case notes. The essential syndrome of this rare disorder (described by Leonhard in the preneuroleptic era) consisted in mannerisms and progressive stiffness of psychomotor activity. Mannerisms often developed from obsessive and compulsive ideas; whereas distress disappeared, repetitive behavior developed into a stereotype. Complex movements (e.g. not to shake hands; mutism) became mannerisms. With disease progression stiffness of facial expression and gestures and an impairment of voluntary motor activity became increasingly prominent. There were no signs of (neuroleptic-induced) parkinsonism. Manneristic catatonia affects preponderantly men and exhibits an early age of onset (median: 23 years). In none of the cases a family history of psychiatric illness was noted. Severe obstetric and birth complications as well as the high prevalence of supratentorial and cerebellar CT/MR abnormalities in this patient group point to deviations of prenatal brain maturation. The median yearly dose of neuroleptics was 83.1 g chlorpromazin equivalents. The characteristic psychopathology was not essentially influenced by modern psychopharmacological treatment neither in the beginning nor in the long run irrespective of the time of onset of the disease. Continuous high-dose neuroleptic treatment is not efficacious in this distinct group of systematic schizophrenias. Behavioural training in a rehabilitation unit is the treatment of choice from the early beginning.

Adolescent↗
PubMed1996

A novel functional polymorphism within the promoter of the serotonin transporter gene: possible role in susceptibility to affective disorders.

The serotonin transporter (5-HTT) is a candidate locus for aetiological involvement in affective disorders. Biochemical studies in suicides and depressed patients suggest that 5-HT uptake function is frequently reduced in affective illness. Furthermore, 5-HTT is targeted by widely used antidepressant drugs such as fluoxetine. We have performed an association study of a short variant of the 5-HTT-linked polymorphic region (5-HTTLPR), which restricts transcriptional activity of the 5-HTT promoter leading to low functional expression of the 5-HTT, in 454 patients with bipolar or unipolar affective disorder and 570 controls, derived from three European Centres (London, Milan and Würzburg). In all three centres, the frequency of the low activity allele was higher in patients than in controls (50% vs 45% in London, 45% vs 43% in Milan, 47% vs 40% in Würzburg). Although these differences were not individually significant, a stratified analysis of all three samples gave a significant overall odds ratio of 1.23 (95% confidence interval 1.02-1.49, P = 0.03). The excess of the homozygous low-activity genotype among the patients was even greater (odds ratio 1.53, 95% confidence interval 1.04-2.23, P = 0.02), suggesting partial recessively of the low-activity allele. Given the functional role of 5-HTT, our findings suggest that 5-HTTLPR-dependent variation in functional 5-HTT expression is a potential genetic susceptibility factor for affective disorders. If this finding is replicated, further work on genetic variants with low 5-HTT activity may facilitate the differential diagnosis of affective disorders, the assessment of suicidal behaviour, and the prediction of good clinical response to antidepressants.

Alleles↗
PubMed1995

Evidence against unusual sex concordance and pseudoautosomal inheritance in the catatonic subtype of schizophrenia.

The study is based on sibships with multiply afflicted members derived from a family study of consecutively admitted probands with catatonic schizophrenia. As shown recently, the clinical subtype of periodic catatonia, as defined by Leonhard, is compatible with a major gene effect and genetic anticipation; that is, the age of illness onset of the probands is significantly earlier than that of their parents. In the present study, 83 probands with the clinical subtype of periodic catatonia had 26 afflicted siblings that were distributed among 23 families. We analyzed sex-concordance and pseudoautosomal inheritance patterns. Stratifying the 26 afflicted siblings by sibship size and by the proband's sex, we did not find unusual sex-concordance rates in sibships afflicted with periodic catatonia. Further, there was no association between sex concordance and maternal or paternal origin of the disease. Thus, our results provide strong evidence against pseudoautosomal inheritance or sex-linked transmission in affected sibships in the obviously familial schizophrenic subtype of periodic catatonia.

Adult↗
PubMed1995

Periodic catatonia: a schizophrenic subtype with major gene effect and anticipation.

In a family study involving 139 probands with DSM-III-R catatonic schizophrenia and 543 first-degree relatives, we investigated age-specific morbidity risk according to Leonhard's clinical distinction between systematic and periodic catatonia. This dichotomy is based on different types of symptomatology, course, and outcome. In systematic catatonia the age-corrected morbidity risk was 4.6%. In periodic catatonia, however, there was an age-corrected morbidity risk with homogenous psychoses of 26.9%, and more parents than siblings were affected. This points strongly to a major gene effect in periodic catatonia. Furthermore, a pairwise comparison of patients and their parents revealed patterns of anticipation, i.e., the probands' age at the onset of disease was significantly earlier than that of their parents (P < 0.001). Similarly, anticipation was apparent in pedigrees with three successive generations affected. This inheritance pattern with homogenous psychoses and anticipation indicates that genes with trinucleotid repeat expansion or other repetitive elements affecting gene expression may be involved in the etiology of periodic catatonia. Thus, periodic catatonia as a specific clinical subtype of schizophrenia is a promising candidate for molecular genetic evaluation.

Adult↗
PubMed1994

P300 in schizophrenia: interactions between amplitudes and topography.

Low P300 amplitudes and topographical asymmetries have been reported in schizophrenic patients, but reference-independent amplitude assessment failed to replicate reduced amplitudes. P300 amplitude is conventially assessed at midline electrodes (Pz), and asymmetric topography as reported in schizophrenics, may confound this measurement. We investigated the possible interaction between P300 topography and assessments of amplitudes. In 41 clinically stable schizophrenics and 31 normal controls, the general finding of reduced amplitudes at the Pz-electrode and topographical asymmetries in the patient group were replicated. In both groups, asymmetries of the P300 field (lateralized peaks) reduced the standard amplitude assessment at the midline parietal electrode, but did not affect the reference-independent, global amplitude assessment. This shows that asymmetry per se does not imply reduced field strength. In addition, in schizophrenics, but not in controls, there was a significant effect of the direction of asymmetry on both amplitude measures, amplitudes being lower with increasing shift of the P300 peak to the right side. Considering also the slightly left-lateralized peaks in the normal controls, this suggests that only right-lateralized P300 peaks express functional deficits in schizophrenics, whereas left-lateralized peaks fall within the physiological variability of the P300 field. The reference-independent amplitude assessment is proposed for unambiguous amplitude assessment in order to better define the clinical, psychological and physiopathological meaning of the P300 alterations in schizophrenics.

Adult↗
PubMed1994

Triplet repeats in clinical subtypes of schizophrenia: variation at the DRPLA (B 37 CAG repeat) locus is not associated with periodic catatonia.

Clinical evidence for a dominant mode of inheritance and anticipation in periodic catatonia, a distinct subtype of schizophrenia, indicates that genes with triplet repeat expansions or other unstable repetitive elements affecting gene expression may be involved in the etiology of this disorder. Because patients affected with dentatorubral-pallidoluysian atrophy (DRPLA) may present with "schizophrenic" symptoms, we have investigated the DRPLA (B 37 CAG repeat) locus on chromosome 12 in 41 patients with periodic catatonia. The B 37 CAG repeat locus was highly polymorphic but all alleles in both the patient and control group had repeat sizes within the normal range. We conclude that variation at the DRPLA locus is unlikely to be associated with periodic catatonia. The evidence for dominant inheritance and anticipation as well as the high prevalence of human brain genes containing trinucleotide repeats justifies further screening for triplet repeat expansions in periodic catatonia.

Adult↗
PubMed1994

P300 asymmetries in schizophrenia revisited with reference-independent methods.

Evidence of hemispheric asymmetries in schizophrenia has been reported from different research areas. Asymmetries in evoked potential P300 topography are still controversial because of inconsistent findings. In the present study, previous results of abnormal lateralization of P300 were replicated in stabilized residual schizophrenic patients. Auditory P300 was recorded during an oddball task in which subjects detected rare target stimuli. Schizophrenic patients had the P300 peak shifted to the right hemisphere and differed significantly from age- and sex-matched normal control subjects who had left-lateralized P300 peaks. A comparison of different methods of assessment and analysis of the topographical features of the P300 electric fields showed that the extraction of reference-independent descriptors of P300 topography is a reliable and sensitive method for statistical handling of the maps. The results suggest left hemispheric dysfunction during cognitive tasks in a subgroup of schizophrenic patients. Inconsistencies between previous studies are likely to be due to heterogeneous patient groups, which may have included patients in an acute schizophrenic episode or patients in clinical remission. Investigation of the clinical meaning of P300 alterations requires careful psychopathological definition of the patient groups.

Adult↗
PubMed1994

[Pregnancy infections in mothers of chronic schizophrenic patients. The significance of differential nosology].

In a retrospective study, 16 of 80 mothers of chronic DSM III-R schizophrenics reported having had a serious infectious disease during pregnancy. Eleven of the infections had occurred during the second trimester. Influenza and the common cold with fever were frequent. Ten of 80 female controls also recalled having had an infectious illness during pregnancy. Compared to the controls, mothers of schizophrenics reported more infectious illness during pregnancy, particularly during the fifth month of gestation (p < 0.05). Mothers of familial and of sporadic DSM III-R schizophrenics reported equal frequencies of infections in pregnancy. In contrast, when Leonhard's classification of psychoses was applied, significant differences appeared. Infections during pregnancy were scarcely found in unsystematic schizophrenics (mainly genetically determined according to Leonhard). In systematic schizophrenics (mainly exogenously determined according to Leonhard), a significantly higher frequency of infectious diseases was reported for the second trimester as compred both to controls (p < 0.01) and to unsystematic schizophrenics (p < 0.001). Infections during the fifth month of gestation were exclusively reported in systematic schizophrenics. Thus, in the systematic forms of schizophrenia infections during the second trimester and particularly during the fifth month of gestation seem to play an important role in the etiology and seem to be of causal importance for the various cytoarchitectural abnormalities detected in the central nervous system of schizophrenics.

Adult↗
PubMed1994

[Hyperintensive intramedullary lesions in psychiatric patients. Spatial distribution and psychopathologic symptoms].

In a sample of 130 patients who had undergone MRI (transverse T2-weighted SE sequence) patchy white matter lesions (WML) were documented according to number and spatial distribution in the brain. Ventricle-to-Brain Ratio (VBR) was determined. Configural frequency analysis led to delineation of four patient groups on the basis of WML location: 1. no WML (n = 35), 2. right frontal-temporal WML (n = 23), 3. bifrontal WML (n = 12), 4. WML in all/all but one brain region (n = 16). Psychopathological symptoms reported in the course of a maximum of 3 years were documented by chart review. In the 'pervasive WML' group psychopathological items characteristic of organic brain syndromes prevailed, mean VBR exceeded values in all other groups (ANOVA, p < 0.001). WML spatial distribution accounted for 10.2% of total psychopathological variance. Patient age, but not VBR, had a significant impact on symptom profile (MANCO-VA). When the 'pervasive WML' group was excluded, the finding of a significant effect of WML location on psychopathological symptom profiles was robust. Bifrontal WML were associated with thought incoherence, right frontal-temporal WML with affective symptoms. Findings support an impact of spatial distribution of unspecific WML on psychopathological symptoms in psychiatric patients.

Adult↗
PubMed1993

[Pregnancy and labor complications--their significance in the development of schizophrenic psychoses].

In a retrospective study of 80 chronic DSM III-R schizophrenics and 80 controls, the occurrence of obstetric complications (OCs) into the development of chronic schizophrenias was investigated using Leonhard's distinction in systematic schizophrenia (no obvious familial loading) and unsystematic schizophrenia (mainly genetically determined according to Leonhard). The Lewis & Murray and Fuchs scales were used for evaluation. In both scales, unsystematic schizophrenias did not differ from controls, but those with OCs were significantly (p < 0.01) earlier hospitalized (20.5 years) than those without OCs (25.6 years). Systematic schizophrenics had an increased frequency, severity and total score of OCs compared to controls in the Fuchs scale (p < 0.01). Likewise, in the Lewis & Murray scale systematic schizophrenia showed an increased presence of OCs compared to controls (p < 0.05) and to unsystematic schizophrenia (p < 0.1). Systematic schizophrenias were significantly allocated to maternal infectious diseases during mid-gestation. Patients with maternal infections showed more additional OCs than those without (p < 0.05; Lewis & Murray scale). In systematic schizophrenia, a history of OC was not associated with an early onset of the disease. In the genetic determined schizophrenias prenatal and perinatal disturbances lead to an early onset of the disease, however, in systematic schizophrenias they seem to be of causal importance for the development of the disease.

Adult↗
PubMed1993

[The early childhood form of negativistic catatonia].

In a case report the clinical manifestation of negativistic catatonia with its modified symptomatology by first onset in early childhood is presented. The symptomatology consists of negativism, negativistic excitations with (auto)aggressivity and impulsive behaviour. Development of expressive language is lacking or is arrested. Physical development is retarded. These conditions are seldom recognized but diagnosed as organic brain syndrome or more unspecifically as "pervasive developmental disorder" (DSM III-R, ICD 10).

Adult↗
PubMed1987

[Position and position variations of the canal system of the temporal bone in frontal section].

Estimated are: 1. The axis of the internal acoustic meatus to the horizontal plane in adults and postnatal changes. 2. Eight coronal sections of the temporal bone have been selected to localize the canal systems and structures in the petrous part of the temporal bone and their variations. 3. Described are the different parts of the facial canal, the carotic canal, the auditive tube, the tensor tympani muscle, the major petrosal nerve, and its distances to the carotic canal, the cochlea, the internal acoustic meatus, the supra- and infracochlear cells, the fenestra vestibuli, the fossa jugularis, the canaliculus cochleae, the vestibulum and the semicircular canals. This report includes the development of the supravestibular and other mastoideal cells in the neighbourhood of the canal systems of the petrous bone and the vestibular aqueduct and sac. Estimated are also the distances between the different canal systems. 4. The investigations are discussed with our earlier researches and the results of other researchers and its diagnostic in clinical importance.

Adolescent↗
PubMedDate not supplied

Gender differences and age of onset in the catatonic subtypes of schizophrenia.

In a family study involving 139 probands with chronic DSM-III-R schizophrenia, catatonic type, 83 probands met the criteria for periodic catatonia and 56 probands those for systematic catatonia according to Leonhard. In the systematic catatonias, we found a low morbidity risk of 4.6% in first-degree relatives, an early age at first hospitalization and a high prevalence of affected males. In the light of our recent report of an association between maternal gestational infection and systematic schizophrenia, male fetuses exposed to midgestational infection seem to be particularly at risk of developing systematic catatonia. Periodic catatonia with a family morbidity risk of 26.9% affected both genders with equal frequency and showed no age-at-onset differences between the genders. We found a moderate inverse relationship between early-onset probands and an increased risk in relatives of 24.1% compared to 17.8% in late-onset probands. Our findings substantiate the hypothesis that periodic catatonia is a clinically homogenous disorder with a major gene effect and an age at onset which is to a large extent genetically determined.

Adult↗
PubMedDate not supplied

Long-term course and outcome of severe postpartum psychiatric disorders.

Thirty-nine women who had suffered from a severe first-episode postpartum psychiatric illness were re-examined after a period of 6-26 years (averaging 12.5 years). Diagnoses were established according to ICD-10 and Leonhard's classification, revealing a marked predominance of cycloid psychoses (54%) according to Leonhard. There was no evidence of the nosological independence of postpartum psychosis. Only 4 patients (10%) had never recovered fully since the onset of the illness. In contrast, 6 patients had undergone a monophasic course without any further psychopathology. In 20 cases (51%) the illness had run a multiphasic course. The average number of episodes per patient was 2.5 (range 2-6). The course was not determinable in 4 patients (10%). Nineteen women (49%) had 22 further deliveries after the first manifestation of the illness. The frequency of a relapse in connection with further pregnancy or delivery was 50%. Applying the Strauss-Carpenter Outcome Scale, we found a favourable outcome for the total sample with a mean value of 14.1 (SD = 2.6). The vast majority of patients (75%) showed no persistent alterations. Our findings provide further evidence of a favourable prognosis of severe postpartum psychiatric disorder despite the remarkably high rate of puerperal relapses.

Adult↗
PubMedDate not supplied

On interrater reliability for Leonhard's classification of endogenous psychoses.

Twenty-two patients with a diagnosis of schizophrenia according to DSM-III-R and ICD-10 criteria, for whom the long-term courses of illness were all well documented, were classified by 4 independent investigators using Leonhard's classification of endogenous psychoses. With regard to the large nosological groups of cycloid psychoses (including the subtypes of anxiety-happiness psychosis, confusional psychosis and motility psychosis), of unsystematic schizophrenias (including the subtypes of affect-laden paraphrenia, cataphasia and periodic catatonia), and of systematic schizophrenias (divided into systematic catatonias, systematic paraphrenias, and hebephrenias), is was possible to reach a high level of agreement in the diagnosis, representing a Cohen kappa coefficient of 0.82 and 0.89, respectively. In only 2 out of 22 patients were discrepancies observed in the assignment to the above-mentioned groups. This clearly shows the high reliability of Leonhard's classification, which allows a differentiated diagnostic and prognostic judgement of schizophrenic psychoses according to the DSM-III-R and ICD-10.

Adult↗