Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036341 (schizophrenia)
 60,220 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Genetic heterogeneity in catatonic schizophrenia: a family study. 872 46

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.
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PMID:Gender differences and age of onset in the catatonic subtypes of schizophrenia. 978 Mar 97

The nature of subtypes in schizophrenia and the meaning of heterogeneity in schizophrenia have been considered a principal controversy in psychiatric research. We addressed these issues in periodic catatonia, a clinical entity derived from Leonhard's classification of schizophrenias, in a genomewide linkage scan. Periodic catatonia is characterized by qualitative psychomotor disturbances during acute psychotic outbursts and by long-term outcome. On the basis of our previous findings of a lifetime morbidity risk of 26.9% of periodic catatonia in first-degree relatives, we conducted a genome scan in 12 multiplex pedigrees with 135 individuals, using 356 markers with an average spacing of 11 cM. In nonparametric multipoint linkage analyses (by GENEHUNTER-PLUS), significant evidence for linkage was obtained on chromosome 15q15 (P = 2.6 x 10(-5); nonparametric LOD score [LOD*] 3.57). A further locus on chromosome 22q13 with suggestive evidence for linkage (P = 1.8 x 10(-3); LOD* 1.85) was detected, which indicated genetic heterogeneity. Parametric linkage analysis under an autosomal dominant model (affecteds-only analysis) provided independent confirmation of nonparametric linkage results, with maximum LOD scores 2.75 (recombination fraction [theta].04; two-point analysis) and 2.89 (theta =.029; four-point analysis), at the chromosome 15q candidate region. Splitting the complex group of schizophrenias on the basis of clinical observation and genetic analysis, we identified periodic catatonia as a valid nosological entity. Our findings provide evidence that periodic catatonia is associated with a major disease locus, which maps to chromosome 15q15.
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PMID:Splitting schizophrenia: periodic catatonia-susceptibility locus on chromosome 15q15. 1100 82

We hypothesize that copy number variants (CNVs) contribute to the location of schizophrenia linkage regions. Therefore, we test whether CNVs published by the International Schizophrenia Consortium are enriched in schizophrenia linkage regions recorded in the Online Mendelian Inheritance in Man database. For each region, the number of overlapping CNV events and the number of CNV base pairs are compared with 10 000 random regions of matched size. This shows an enrichment of CNV events within the linkage regions SCZD4 (22q11), SCZD10 (15q13-q14) and SCZD12 (1p36) for both cases and controls. The magnitude of this genomic enrichment of CNV event is more pronounced among cases for SCZD10 and SCZD12, whereas the number of CNV base pairs is greater among cases for SCZD4 and SCZD10. These results are consistent with a higher mutability that has produced an increased CNV burden in these regions in both cases and controls, with CNVs being more likely to be deleterious among cases.
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PMID:Testing the genomic enrichment of a large copy number variation within schizophrenia linkage regions. 2291 16

Bipolar disorder (BD) and schizophrenia are complexly inherited and highly heritable disorders with currently unknown etiologies. Recently, two independent genome-wide association studies for BD identified a small region on chromosome 15q14-15.1, pointing to a locus close to the gene C15orf53. Previously, this genomic region was also found to co-segregate with periodic catatonia (SCZD10, OMIM %605419), an unsystematic schizophrenia according to Leonhard's classification, in several multiplex families, thus pointing to overlapping etiologies of both conditions. A susceptibility locus on chromosome 15q14-15.1 was narrowed down to a 4.38 Mb region in these affected families followed by mutation and segregation analyses of C15orf53. Association analysis of individuals affected by BD and/or SCZD10 (n = 274) and controls (n = 230) and expression analyses in distinct post-mortem human limbic brain tissues were conducted. C15orf53 revealed no mutations in our SCZD10 family members, but segregation of two common haplotypes was found. No association of identified haplotypes was found in our case-control samples. Gene expression could be demonstrated for immune-system-derived cells but not for the post-mortem human limbic brain tissue. Our results indicate that C15orf53 is probably neither causative for the etiology of BD nor for SCZD10 in our samples.
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PMID:The chromosome 15q14 locus for bipolar disorder and schizophrenia: is C15orf53 a major candidate gene? 2294 46