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  • 1
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Septum pellucidum ; Entwicklungs- störungen ; Zerebrale Fehlbildungen ; Schizophrenie ; Magnetresonanztomographie ; Key words Septum pellucidum ; Developmental disorder ; Cerebral malformations ; Schizophrenia ; MRI
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Absence of the septum pellucidum is a rare developmental disorder of the human brain. Previous reports focused on the association with other cerebral anomalies. We present MRI scans showing an isolated absence of the septum pellucidum. The patient was suffering from a schizophrenic psychosis. Mental retardation or epileptic seizures, which are often found in more complex developmental brain disorders, were not observed. The septal area is part of the limbic system and aplasia of the septum pellucidum could indicate developmental anomalies of the limbic system. The concept of cerebral maldevelopment and the limbic system in schizophrenic psychosis is discussed.
    Notes: Zusammenfassung Die isolierte Aplasie des Septum pellucidum gehört zu den seltenen dysplastischen Fehlbildungen des Gehirns. Während in älteren Arbeiten das Fehlen des Septum pellucidum meistens im Zusammenhang mit weiteren zerebralen Fehlbildungen berichtet wird, so zeigen neuere Untersuchungen doch häufiger auch isolierte Aplasien ohne weitere Fehlbildungen des Gehirns. Dabei scheint ein breites Spektrum der Fehlbildungen von komplexen Hirnfehlbildungen bis hin zur einfachen Aplasie des Septum pellucidum zu reichen. Kasuistisch wird über die Aplasie des Septum pellucidum bei einem Patienten berichtet, welche kernspintomographisch im Rahmen der routinemäßig durchgeführten bildgebenden Diagnostik gefunden wurde. Klinisch wurde bei dem Patienten eine hebephrene Psychose diagnostiziert. In der Ätiologie der schizophrenen Psychosen werden dysontongenetische Mechanismen diskutiert, v.a. Migrationsstörungen in limbischen Strukturen. Eine erhöhte Inzidenz von Anomalien des Septum pellucidum, v.a. Septum-pellucidum-Zysten ist von mehreren Autoren bei schizophrenen Patienten berichtet worden. Die Bedeutung des Septum pellucidum und des Septum verum als Bestandteile des limbischen Systems werden erörtert und eine mögliche Relevanz für das Konzept der dysontogenetischen Ätiologie schizophrener Psychosen wird diskutiert.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European archives of psychiatry and clinical neuroscience 245 (1995), S. 135-141 
    ISSN: 1433-8491
    Keywords: Schizophrenia ; Periodic catatonia ; Inheritance ; Anticipation ; Leonhard classification
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract 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 morbility 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.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1433-8491
    Keywords: Key words 5-HTT ; Serotonin transporter ; Gene ; Promoter ; Allelic variation ; Repeat element ; polymorphism ; Schizophrenia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract 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 (χ2, p = 0.920) and allele frequencies (χ2, 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.
    Type of Medium: Electronic Resource
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