Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The prevalence of cutis verticis gyrata was studied in a psychiatric institutional population of 494 patients, the majority of whom were mentally retarded or had chronic schizophrenia. Twenty-two subjects (21 males and 1 female) were found to have primary cutis verticis gyrata, yielding a prevalence of about 4.5%. The frequency of the scalp disorder was 11.4% among mentally retarded patients and 1.7% in schizophrenic subjects. A cytogenetic study was performed on patients with primary cutis verticis gyrata. In 9 out of 21 subjects there was evidence of chromosomal fragile sites: 5 patients had fragile sites on the X-chromosome, in 2 there was fragility of chromosome 12 and in 2, fragility of chromosome 9. The fragile X-site is the genetic marker of the 'fragile X-syndrome', a sex-linked inherited disorder often associated with mental retardation and other neuropathological findings.
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PMID:Prevalence of primary cutis verticis gyrata in a psychiatric population: association with chromosomal fragile sites. 198 19

Records of 247 inpatients with mental retardation or autism discharged from a university hospital during 62 consecutive months were examined with regard to acute inpatient treatment. The main finding was that elderly adults with mental retardation had significantly more medical problems than did adults. There was a trend toward significantly more elderly adults being transferred to a state hospital. An unexpected finding was that the most common diagnosis in both adults and elderly adults was chronic schizophrenia, paranoid type. Limitations of the study and possible explanations of the findings were discussed.
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PMID:Acute psychiatric hospital admissions of adults and elderly adults with mental retardation. 829 20

In the search for the biological causes of schizophrenia and bipolar disorder, glutamate neurotransmission has emerged as one of a number of candidate processes and pathways where underlying gene deficits may be present. The analysis of chromosomal rearrangements in individuals diagnosed with neuropsychiatric disorders is an established route to candidate gene identification in both Mendelian and complex disorders. Here we describe a set of genes disrupted by, or proximal to, chromosomal breakpoints (2p12, 2q31.3, 2q21.2, 11q23.3 and 11q24.2) in a patient where chronic schizophrenia coexists with mild learning disability (US: mental retardation). Of these disrupted genes, the most promising candidate is a member of the kainate-type ionotropic glutamate receptor family, GRIK4 (KA1). A subsequent systematic case-control association study on GRIK4 assessed its contribution to psychiatric illness in the karyotypically normal population. This identified two discrete regions of disease risk within the GRIK4 locus: three single single nucleotide polymorphism (SNP) markers with a corresponding underlying haplotype associated with susceptibility to schizophrenia (P=0.0005, odds ratio (OR) of 1.453, 95% CI 1.182-1.787) and two single SNP markers and a haplotype associated with a protective effect against bipolar disorder (P=0.0002, OR of 0.624, 95% CI 0.485-0.802). After permutation analysis to correct for multiple testing, schizophrenia and bipolar disorder haplotypes remained significant (P=0.0430, s.e. 0.0064 and P=0.0190, s.e. 0.0043, respectively). We propose that these convergent cytogenetic and genetic findings provide molecular evidence for common aetiologies for different psychiatric conditions and further support the 'glutamate hypothesis' of psychotic illness.
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PMID:Cytogenetic and genetic evidence supports a role for the kainate-type glutamate receptor gene, GRIK4, in schizophrenia and bipolar disorder. 1681 33