TY - JOUR A1 - Lesch, K. P. A1 - Stöber, Gerald A1 - Balling, U. A1 - Franzek, Ernst A1 - Li, S. H. A1 - Ross, C. A. A1 - Newman, M. A1 - Beckmann, H. A1 - Riederer, P. T1 - Triplet repeats in clinical subtypes of schizophrenia: variation at the DRPLA (B37 CAG repeat) locus is not associated with periodic catatonia N2 - 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. KW - Schizophrenie KW - Association study KW - B 37 CAG repeat locus KW - chromosome 12 KW - schizophrenia KW - periodic catatonia Y1 - 1994 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-63369 ER - TY - JOUR A1 - Stöber, Gerald A1 - Franzek, E. A1 - Beckmann, H. T1 - Schwangerschafts- und Geburtskomplikationen - ihr Stellenwert in der Entstehung schizophrener Psychosen N2 - In a retrospective study of 80 chronic DSM 111-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 < 0.0 I). Likewise, in the Lewis & Murray scale systematic schizophrenia showed an increased presence ofOCs compared to controls (p < 0.05) and to unsystematic schizophrenia (p < 0.1 ). Systematic schizophrenias were significantly allocated to matemal infectious diseases during mid-gestation. Patients with matemal infections showed moreadditional 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 disturbanccs Iead to an early onset of the disease, however, in systematic schizophrenias they seem to be of causal importance for the development of the disease. N2 - Auf der Grundlage von Leonhards Unterteilung in systematische Schizophrenien (niedriges genetisches Risiko) und unsystematische Schizophrenien (nach Leonhardr Befunden hauptsächlich genetisch determiniert) wurden in einer retrospektiven Studie bei 80 Patienten mit chronischen DSM 111-R Schizophrenien und 80 Kontrollen die Häufigkeit von Schwangerschafts- und Geburtskomplikationen untersucht. Zur Auswertung wurden die Skalen von Lewis & Murray sowie von Fuchs verwandt. Unsystematische Schizophrenien unterschieden sich in beiden Skalen nicht von den Kontrollen. Diejenigen mit Komplikationen wurden jedoch signifikant früher als diejenigen ohne Komplikationen ersthospitalisiert (p < 0,01 ). Bei systematischen Schizophrenen waren in ; der Skala von Fuchs Häufigkeit, Schweregrad sowie der Summenwert der Komplikationen gegenüber den Kontrollen erhöht (p < 0,0 I). Auch in der Skala von Lewis & Murray traten häufiger obstetrische Komplikationen auf als bei Kontrollen (p < 0,05) und unsystematischen Schizophrenen (p < 0,1 ). Systematische Schizophrenien waren auch assoziiert mit Schwangerschaftsinfektionen im zweiten Trimenon. Mütter mit Schwangerschaftsinfektionen zeigten gehäuft weitere perinatala Komplikationen (p < 0,05). Geburtskomplikationen hatten bei systematischen Schizophrenen jedoch keinen Einfluß auf den Zeitpunkt des Krankheitsbeginns. Während pdi und perinatale Störungen bei genetisch determinierten Schizophrenien lediglich einen frühen Krankheitsbeginn bewirken, scheinen sie bei den systematischen Schizophrenien von ursächlicher Bedeutung fiir die Krankheitsentstehung zu sein. KW - Schwangerschaft KW - Schizophrenie Y1 - 1993 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-63343 ER - TY - JOUR A1 - Heinsen, Helmut A1 - Heinsen, Y. L. A1 - Beckmann, H. A1 - Gallyas, F. A1 - Haas, S. A1 - Scharff, G. T1 - Laminar neuropathology in Alzheimer's disease by a modified Gallyas impregnation N2 - No abstract available KW - Medizin KW - Alzheimer-Krankheit Y1 - 1989 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59933 ER - TY - JOUR A1 - Carsten A., Böger A1 - Gorski, Mathias A1 - Li, Man A1 - Hoffmann, Michael M. A1 - Huang, Chunmei A1 - Yang, Qiong A1 - Teumer, Alexander A1 - Krane, Vera A1 - O'Seaghdha, Conall M. A1 - Kutalik, Zoltán A1 - Wichmann, H.-Erich A1 - Haak, Thomas A1 - Boes, Eva A1 - Coassin, Stefan A1 - Coresh, Josef A1 - Kollerits, Barbara A1 - Haun, Margot A1 - Paulweber, Bernhard A1 - Köttgen, Anna A1 - Li, Guo A1 - Shlipak, Michael G. A1 - Powe, Neil A1 - Hwang, Shih-Jen A1 - Dehghan, Abbas A1 - Rivadeneira, Fernando A1 - Uitterlinden, André A1 - Hofman, Albert A1 - Beckmann, Jacques S. A1 - Krämer, Bernhard K. A1 - Witteman, Jacqueline A1 - Bochud, Murielle A1 - Siscovick, David A1 - Rettig, Rainer A1 - Kronenberg, Florian A1 - Wanner, Christoph A1 - Thadhani, Ravi I. A1 - Heid, Iris M. A1 - Fox, Caroline S. A1 - Kao, W.H. T1 - Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD JF - PLoS Genetics N2 - Family studies suggest a genetic component to the etiology of chronic kidney disease (CKD) and end stage renal disease (ESRD). Previously, we identified 16 loci for eGFR in genome-wide association studies, but the associations of these single nucleotide polymorphisms (SNPs) for incident CKD or ESRD are unknown. We thus investigated the association of these loci with incident CKD in 26,308 individuals of European ancestry free of CKD at baseline drawn from eight population-based cohorts followed for a median of 7.2 years (including 2,122 incident CKD cases defined as eGFR < 60ml/min/1.73m(2) at follow-up) and with ESRD in four case-control studies in subjects of European ancestry (3,775 cases, 4,577 controls). SNPs at 11 of the 16 loci (UMOD, PRKAG2, ANXA9, DAB2, SHROOM3, DACH1, STC1, SLC34A1, ALMS1/NAT8, UBE2Q2, and GCKR) were associated with incident CKD; p-values ranged from p = 4.1e-9 in UMOD to p = 0.03 in GCKR. After adjusting for baseline eGFR, six of these loci remained significantly associated with incident CKD (UMOD, PRKAG2, ANXA9, DAB2, DACH1, and STC1). SNPs in UMOD (OR = 0.92, p = 0.04) and GCKR (OR = 0.93, p = 0.03) were nominally associated with ESRD. In summary, the majority of eGFR-related loci are either associated or show a strong trend towards association with incident CKD, but have modest associations with ESRD in individuals of European descent. Additional work is required to characterize the association of genetic determinants of CKD and ESRD at different stages of disease progression. KW - Chronic Kidney-disease KW - Stage renal-disease KW - Glomerular-filtration-rate KW - Diabetic-nephropathy KW - General-population KW - African-americans KW - Risk KW - Progression KW - Mortality KW - Variants Y1 - 2011 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-133758 VL - 7 IS - 9 ER - TY - JOUR A1 - Stöber, Gerald A1 - Franzek, E. A1 - Beckmann, H. T1 - The role of maternal infectious diseases during pregnancy in the etiology of schizophrenia in offspring N2 - In 55 chronic schizophrenics, the occurrence of infectious diseases during their mothers' pregnancies was investigated. Different psychiatrie diagnostic systems were compared. Infections were reported by the mothers of familial and sporadic DSM I1I-R schizophrenics in equal proportion. However, applying Leonhard's classification, the frequency of infections was found to be significantly increased in 'systematic' schizophrenia (mainly exogenously induced in the view of Leonhard) compared to 'unsystematic' schizophrenia (mainly genetically determined according to Leonhard's findings). Most of the infections occurred during the second trimester (nine out of 13). Thus, in the 'systematic' forms of schizophrenia (low genetic loading), maternal infections in this crucial period of neurodevelopment would appear to be important causative factors in the cytoarchitectural deviance detected in the central nervous system of schizophrenics. KW - Psychiatrie KW - maternal infection KW - pregnancy KW - schizophrenia KW - familial-sporadic concept KW - Leonhard classification Y1 - 1992 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-82216 ER - TY - JOUR A1 - Franzek, E. A1 - Sperling, W. A1 - Stöber, Gerald A1 - Beckmann, H. T1 - Die frühkindliche Form einer negativistischen Katatonie N2 - Es wird ein Krankheitsbild negativistischer Katatonie nach Leonhard mit nachweislichem Beginn in der frühen Kindheit beschrieben. Dieses zeichnet sich durch Negativismus, negativistische Erregungen mit (Auto)aggressivität und triebhaften Durchbrüchen aus. Die expressive Sprachentwicklung fehlt oder sie bleibt auf dem erreichten Entwicklungsstand stehen. Die körperliche Gesamtreifung ist retardiert. Zumeist nicht als frühkindliche Katatonien erkannt, werden diese Krankheiten fälschlich als "Schwachsinn bei frühkindlichem Hirnschaden" oder unspezifisch als "tiefgreifende Entwicklungsstörung" (DSM III-R, ICD 10) diagnostiziert. N2 - 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). KW - Schizophrenie KW - Neurologie KW - Psychiatrie KW - Frühkindliche Katatonie KW - Leonhard-Klassifikation KW - Schizophrenia KW - Early infant catatonia KW - Leonhard classification Y1 - 1993 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-78448 ER - TY - JOUR A1 - Stöber, Gerald A1 - Franzek, E. A1 - Beckmann, H. T1 - Die selbstquälerische Depression: eine Form monopolarer endogener Depression N2 - Anhand von drei exemplarischen fällen wird. das Krankheitsbild der selbstquälerischen Depression, eine Form der reinen Depressionen Leonhards, dargestellt. Im Zentrum stehen die Ideen der Selbsterniedrigung und Selbstentwertung und der sich daran entwickelnde ängstlich-depressive Affekt. Charakteristisch ist auch die Angst um die nächsten Angehörigen. In ihren Selbstanklagen erwarten und fordern die Patienten für sich die schrecklichsten Strafen. Diese wenigen Leitsymptome kehren in jeder Krankheitsphase gleichförmig wieder. Andere depressive Symptome wie Denkhemmung und psychomotorische Hemmung treten dagegen völlig in den Hintergrund. Der Krankheitsverlauf ist streng monopolar. Die Dauer der Krankheitsphasen wurde von Leonhard mit durchschnittlich 5,8 Monaten angegeben. Sie betrug bei unseren Patienten durchschnittlich 4,1 Monate. Das klinische Erscheinungsbild ist durch moderne Behandlungsstrategien nicht wesentlich zu beeinflussen. Eine familiäre Belastung mit affektiven Psychosen findet sich nur sehr selten. N2 - Three ease reports will be used to describe the self-torturing depression, one form of Leonhard's monopolar depressive disorders. The main symptomatology consists of marked feelings of guilt, as weil as ideas of self-abasement and self-depreciation. The severe anxious-depressive affect developes on the grounds of these symptoms. Worries of the patients about their family are also characteristic. Excessive self-reproach results in the expectation of and demand for heaviest punishment. These symptoms repeatedly occur during each episode. Other depressive symptoms like inhibited thinking and motor retardation are lacking. The course of the disease is strictly monopolar. In Leonhard's original description the mean duration of the episodes was found to be 5.8 months. We noticed a mean duration of 25 episodes of 4.1 months. The clinical manifestation of the episodes can only insignificantly be influenced by modern therapy. There is little evidence for familial loading with affective psychoses. KW - Medizin KW - Psychopathologie KW - monopolare endogene Depression KW - Leonhard-Klassifikation KW - Affective psychoses KW - psychopathology KW - monopolar depressive disorders KW - Leonhard classification Y1 - 1993 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-78454 ER - TY - JOUR A1 - Stöber, Gerald A1 - Franzek, E. A1 - Beckmann, H. T1 - Obstetric complications in distinct Schizophrenie subgroups N2 - In 55 chronic DSM I11 -R schi zophre nics the occurrence of obstetr ic complica ti ons (OCs) was investigated us ing the famili al/sporael ic strategy and Leonhard's unsystemati c/systematic distin ction. The overa ll frequency and severity of OCs elid not differ be tween patie nts anel controls. A sub-sample of patients, whose genetic ri sk was supposed to be high in both class ification systems (d iagnos is 01' unsystematic anel fa mili al sc hizophre ni a), had s igni ficantly fewer OCs than controls on the Lewis anel Murray scale (P < 0.05). With reference to previous reports of inc reased morta lity rates in the offspring of schizop hre nics, high genetic risk and addition al perinatal stressors may in crease perin atal mortality. In contrast, pat ie nts whose genetic ri sk was sllpposed to be low in both systems (di agnos is of systematic and sporadic sc hizophrenia) showed a trend to an increased freqllency of OCs in the Fuchs scale. In the context of the recently reported highl y signi ficantly increased rate of matern al infections dllring midgestation in these pati e nts, it was supposed th at perin atal complications may be of so me ae tio logical importance in sc hizophrenics with low genetic ri sk. KW - Psychiatrie KW - obstetric complications KW - schizophrenia KW - famiIiaI ·sporadic concept KW - Leonhard cIassification Y1 - 1993 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-82223 ER - TY - JOUR A1 - Franzek, E. A1 - Stöber, Gerald A1 - Beckmann, H. T1 - Malignes neuroleptisches und lebensbedrohliches katatones Syndrom: Eine identische Komplikation im Verlauf von funktionellen Psychosen T1 - Malignant neuroleptic syndrome and lethai catatonia: an identical complication in functional psychoses N2 - no abstract available KW - Neuropsychiatrie KW - Malignes neuroleptisches Syndrom KW - akut lebensbedrohlich katatones Syndrom KW - perniziöse Katatonie KW - zykloide Psychose KW - Malignant neuroleptic syndrome KW - Iife threatening catatonic syndrome KW - lethai catatonia KW - cycloid psychosis Y1 - 1994 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-82243 ER -