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)

Fragile X syndrome, an X-linked genetic condition, is an important genetic cause of mental retardation in males. In addition to mental retardation, hemizygous males with fragile X syndrome appear to have a greater likelihood of displaying behaviors classified under the diagnostic category of pervasive developmental disorder than would be expected on the basis of mental retardation alone. Although the majority of female heterozygotes with the fragile X genetic defect are of normal intelligence, our clinical work with this population and a recent case report have suggested that females with fragile X syndrome have an increased rate of schizophrenia spectrum and affective disorders. In this study, the relationship of the fragile X genetic defect to psychopathology in female heterozygotes is investigated by psychiatric evaluation of 35 obligate female carriers of the fragile X chromosome and a comparison group of 24 fragile X-negative controls. Female fragile X carriers were found to have a greater frequency of psychopathology associated with schizophrenia spectrum diagnoses, particularly schizotypal features. A weaker association between the fragile X genetic defect and chronic affective disorders was detected. The specificity of the neuropsychiatric phenotype occurring in particular genetic conditions such as the fragile X syndrome adds a potentially valuable tool to the study of psychopathology in the general population.
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PMID:Psychiatric disability in female carriers of the fragile X chromosome. 333 8

An association between basal ganglia calcification and psychiatric abnormality, mainly schizophrenia, is described in three generations of a family; schizophrenia is also recorded in the previous generation. The mode of inheritance appears to be an X-linked dominant one. Unusual sensitivity to neuroleptics also occurred in four members of the family. No comparable family study is believed by the authors to have been reported previously.
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PMID:Psychiatric abnormality and brain calcification over four generations. 614 86

In this article, the part of hereditary factors in the onset of depressive diseases is analysed. Primary depressive diseases may be now separated in two groups: one includes bipolar depressive syndromes. (e.i. of manic depressive type) and the other the monopolar depressive syndromes (e.i. of depressive type). A short review of twin studies and family studies in the manic depressive type bipolar depressive illnesses is made. From these studies, a discussion about genetical hypothesis concerning the manic depressive illnesses is proposed. Different genetical hypotheses are revisited, and that of a dominant X-linked disease is observed. Genetical factors are also revisited into the heterogeneous group of monopolar depressive diseases, emphasizing the different depressive subgroups of this large category. Finally, the authors also consider the possible relationship between bipolar manic depressive syndromes and schizophrenia, trying to classify the dysthymic schizophrenia.
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PMID:[Recent genetic studies on manic-depression: evaluation and methodology]. 720 Oct 6

Triplet-repeat mutations are a newly discovered class of mutations that have so far been described only in patients with neuropsychiatric disorders. The features of these so-called dynamic mutations are discussed with reference to the known examples (Huntington's chorea, fragile X syndrome, myotonic dystrophy, X-linked spinal and bulbar muscular atrophy, spinocerebellar ataxia type 1, and dentatorubral and pallidoluysian atrophy, DRPLA). These features not only explain a number of clinical-epidemiological facts that cannot be accounted for by Mendelian genetics, but also suggest that schizophrenia and major affective disorder may be the result of a similar mutation mechanism. The most important support for this suggestion can be derived from the observation that dynamic mutations cause anticipation-i.e., an increase in severity and/or an decrease in the age at onset of a disease in subsequent generations-which, in turn, has been discovered in schizophrenia and major affective disorder. From a systematic as well as from a historical perspective, we argue that in light of these findings, degeneration has been rediscovered in the disguise of a new name.
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PMID:[From degeneration to anticipation. Systematic and historical scientific aspects of the genetics of neuropsychiatric diseases]. 867 94

Markers for X chromosome loci were used in linkage studies of a large group of small families (n = 126) with at least two schizophrenic members in one sibship. Based on the hypothesis that a gene for schizophrenia could be X-Y linked, with homologous loci on both X and Y, our analyses included all families regardless of the pattern of familial inheritance. Lod scores were computed with both standard X-linked and a novel X-Y model, and sib-pair analyses were performed for all markers examining the sharing of maternal alleles. Small positive lod scores were obtained for loci pericentromeric, from Xp11.4 to Xq12. Lod scores were also computed separately in families selected for evidence of maternal inheritance and absence of male to male transmission of psychosis. The lod score for linkage to the locus DXS7 reached a maximum of 1.83 at 0.08% recombination, assuming dominant inheritance on the X chromosome in these families (n = 34). Further investigation of the X-Y homologous gene hypothesis focussing on this region is warranted.
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PMID:Search for linkage to schizophrenia on the X and Y chromosomes. 807 61

In families that included two or more siblings with schizophrenia or schizo-affective disorder male-male pairs were found to share alleles at the androgen receptor (AR) gene (in Xq11.2-q12) above chance expectation (p < 0.003); female-female and mixed sex pairs showed no such tendency. The findings are compatible with X-Y linkage or with an X-linked contribution to liability in males.
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PMID:Male siblings with schizophrenia share alleles at the androgen receptor above chance expectation. 829 71

Schizophrenia is considered to be a heterogenous disorder. Different etiopathological mechanism can be attributed to a similar clinical picture as described in DSM-III-R criteria. We present a case of a young man diagnosed on different occasions as schizophrenic with mild mental retardation. Clinical examination revealed signs and symptoms most compatible with the diagnosis of Lujan-Fryns syndrome, an X-linked mental retardation syndrome with marfanoid features, frequently associated with psychotic or other psychiatric symptoms. In all patients with symptoms of schizophrenia and mental retardation Lujan-Fryns syndrome should be considered in the differential diagnosis.
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PMID:Lujan-Fryns syndrome in the differential diagnosis of schizophrenia. 872 50

We have examined 23 families multiply affected with schizophrenia for linkage to the FMR-1 gene on the X chromosome. Alleles at the FMR-1 CGG triplet repeat were analysed by the polymerase chain reaction, and methylation status at the FMR-1 locus in individuals with evidence of expanded or unstable repeats was analysed by Southern hybridization. Two-point LOD score analyses with a range of X-linked single gene models and a non-parametric affected sib-pair method revealed no evidence for linkage. In one family, however, a fragile X premutation was found, and one individual with schizophrenia and developmental delay was a mosaic for the full and premutation. We conclude that although mutations within the FMR-1 gene do not have a major aetiological role in schizophrenia in our collection of pedigrees, it is possible that FMR-1 mutations can modify the clinical phenotype of schizophrenia.
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PMID:Linkage analysis of the fragile X gene FMR-1 and schizophrenia: no evidence for linkage but report of a family with schizophrenia and an unstable triplet repeat. 884 Mar 94

The human genome has many nucleotide repeat sequences. These range from a single repeating base to entire duplicated genes. Expansion of repeating triplets of nucleotides in the genome has recently been associated with nine degenerative and developmental neuropsychiatric diseases: fragile X syndrome, fragile X-linked mental retardation, myotonic dystrophy, Friedreich's ataxia, spinal and bulbar muscular atrophy, Huntington's disease, spinocerebellar ataxia type 1, dentatorubral-pallidoluysian atrophy, and Machado-Joseph disease. These diseases are all conditions of the central nervous system; in all of them, the inheritance pattern usually exhibits the phenomenon of anticipation (defined as progressively earlier age of onset or a worsening disease severity over successive generations), and the severity of the phenotypic expression and penetrance appears to be related to the extent of the triplet expansion. Identification of this pathological genetic phenomenon solves several of the mysteries that surrounded these conditions but raises many important questions regarding pathogenic mechanisms that may be shared. There is some indication that triplet expansions may also underlie other neuropsychiatric conditions such as schizophrenia or bipolar disorder.
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PMID:Triplet repeat gene sequences in neuropsychiatric diseases. 938 23

An earlier age at onset of schizophrenia in men as opposed to women, has been widely reported, but hitherto, insufficient account has been taken of parameters that might confound this finding. Furthermore, few explanatory models have accounted for the differences in shape of the age-at-onset distributions in males and females with schizophrenia. A catchment area sample of 477 first contact cases with schizophrenia or related disorders was ascertained through a case register. Differences in age at onset distributions between males and females were determined, and adjustment made for potential confounding factors. The most powerful predictors of early illness-onset were poor premorbid occupational functioning, single marital status, and male sex. The earlier onset in males was robust to controlling for other parameters. The shape of the onset distribution also differed between the sexes: SKUMIX analysis revealed a two-peak distribution for males, and a three-peak distribution for females. The mean age at onset for schizophrenia is earlier in males, and the onset distribution differs between the sexes. Psychosocial variables cannot explain these findings. Possible explanations for these gender differences include males and females being differentially susceptible to subtypes of illness with different mean ages at onset; precipitating and/or ameliorating factors operating at different stages of life in males and females; and/or an X-linked susceptibility locus that determines the age at onset.
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PMID:Differences in distribution of ages of onset in males and females with schizophrenia. 978 10


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