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

A wide variation in prevalence rates of tardive dyskinesia and spontaneous orofacial dyskinesia has been reported in the elderly. To clarify these discrepancies, we studied 45 patients over the age of 60 years admitted to a short-term psychiatric unit. Standardized criteria for the diagnosis of dyskinesia were used. We found a rate of tardive dyskinesia of only 21% (7/33) in our patients having a history of neuroleptic exposure. We found no cases (0/12) of spontaneous orofacial dyskinesia. There was a significant association between tardive dyskinesia and psychiatric diagnosis, with the highest rate of tardive dyskinesia in those patients with schizophrenic disorders, followed by those with organic disorders and mood disorders, respectively. There was also a significant association between the presence of tardive dyskinesia and radiographic evidence of cortical atrophy, and a trend towards an association with leukoencephalopathy. Our results suggest that published rates of tardive and spontaneous dyskinesia in the elderly may overestimate the prevalence of these disorders, especially among geriatric patients with acute psychiatric presentations.
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PMID:Dyskinesia and neuroleptic exposure in elderly psychiatric inpatients. 135 63

We examined magnetic resonance (MR) scans of the heads of 8 patients with late onset psychosis and 8 aged controls. Although some patients had mild cognitive impairment, none had depression or a history or examination suggesting focal brain disease. Thus, all patients met DSM-III-R criteria for late-onset schizophrenia. All 8 patients showed significant leukoencephalopathy or vascular pathology on MR imaging, and temporoparietal and occipital lesions were especially prominent. Little such pathology was evident on control scans. We suggest that focal brain disease of vascular origin may be associated with late-onset psychosis, and that MR scanning of such cases may provide important clues to pathogenesis.
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PMID:Cerebral white matter disease in late-onset paranoid psychosis. 237 29

Autosomal recessive megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare childhood-onset spongiform leukodystrophy with macrocephaly and slowly progressive deterioration of motor functions. Mutations in KIAA0027/MLC1 have recently been found associated with MLC, and a high degree of allelic heterogeneity has been observed. In addition, initial reports suggested that a rare variant in exon 11 (L309M) is involved in the etiology of schizophrenia, but recent studies have brought forward compelling arguments that genetic variants of MLC1 are not associated with schizophrenia. Using DHPLC-analysis, reproduction of previous findings on L309M revealed homoduplex resolution patterns among individuals, who had been described to be heterozygous for the variant, which was further confirmed by sequencing the respective PCR products. Cumulative effects of high GC content, secondary folding structures due to incomplete intronic tandem-repeats, and a complicated insertion polymorphism at the 3-end of exon 11 may be the cause of preferential amplification of specific alleles of exon 11. Consistent amplification was obtained only when we employed exonic primers directly adjacent to the L309M variant. For mutational screening, we propose a two-step test: (1) testing for the 33 bp insertion polymorphism of exon 11, and (2) amplification of the exon using different primer sets depending on the presence or absence of the insertion.
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PMID:Reduced amplification efficiency of KIAA0027/MLC1 alleles: implications for the molecular diagnosis of megalencephalic leukoencephalopathy with subcortical cysts. 1247 42

The aim of the study is to validate the etiological role of KIAA0027/MLC1 in childhood-onset megalencephalic leukoencephalopathy with subcortical cysts (MLC) and in schizophrenia, particularly the catatonic subtype, which were reported to be allelic diseases. Among a series of five patients with MLC, four mutant alleles were detected: one case of compound heterozygosity for a splice site mutation and a six-base-pair in-frame deletion, one patient with a homozygous frameshifting insertion-deletion, and a further case heterozygous for a A157E substitution. A systematic mutation screening in 140 index cases with schizophrenia revealed 13 different single nucleotide polymorphisms (SNPs): one SNP in the 5'-UTR, seven SNPs in intronic regions, two synonymous codon variants (T52, Y199), and three coding variants. Two of them, C171F and N218K, were observed in controls at a significant frequency. The L309M variant that was previously supposed to be the causative factor for chromosome 22q(tel) linked-periodic catatonia was found nonsegregating in a further multiplex pedigree. Furthermore, a complicated 33-bp insertion/deletion polymorphism at the 5'-end of exon 11 of MLC1 was found at equal frequency among schizophrenic patients and controls. In summary, our study provides further evidence for allelic heterogeneity in megalencephalic leukoencephalopathy, excludes MLC1 as a susceptibility locus for schizophrenia, and thereby rules out that MLC and schizophrenia are allelic disorders.
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PMID:Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? 1249 30