1Schizophr. Res. 2007 Sep 95: 215-22
PMID17664062
TitleAnterior and posterior cingulum abnormalities and their association with psychopathology in schizophrenia: a diffusion tensor imaging study.
AbstractEvidence suggests that a disruption in limbic system network integrity and, in particular, the cingulate gyrus may play a role in the pathophysiology of schizophrenia. The cingulum bundles (CBS; posterior and anterior) are the most prominent white matter tracts in the limbic system, furnishing both input and output to the cingulate gyrus . In previous diffusion tensor imaging (DTI) studies, abnormal integrity has been demonstrated in the anterior CB portion, but not the posterior, in schizophrenia. As well, the relationships between the abnormalities of CB integrity and the psychopathology of schizophrenia remain to be elucidated. Using DTI acquired on a 3 T MRI machine, we examined fractional anisotropy (FA) in the anterior and posterior CBS of 42 patients with schizophrenia and 24 group-matched controls. Moreover, we investigated the relationships between CB abnormalities and the psychopathology of schizophrenia. Bilaterally reduced FA was demonstrated in both anterior and posterior CBS in schizophrenia patients. However, the pattern of FA reduction was different between anterior and posterior CBS: the reduction in FA was left-accentuated in anterior CBS, while no such lateralized abnormality was found in posterior ones. Finally, FA in posterior CBS correlated with positive symptom scores in patients with schizophrenia. These findings suggest that CB abnormalities in schizophrenia are not restricted to the anterior CB, but include the posterior as well. Pathology in the posterior CB would be one of the possible neural underpinnings of positive symptoms in schizophrenia.
SCZ Keywordsschizophrenia, schizophrenic, schizophrenics
2Psychiatry Res 2009 Dec 170: 168-71
PMID19906435
TitleThe 844ins68 polymorphism of the cystathionine beta-synthase gene is associated with schizophrenia.
AbstractA subtle genetic defect in homocysteine metabolism is thought to play an etiologic role in schizophrenia. Cystathionine-beta-synthase (CBS) is a key enzyme related to homocysteine levels. The aim of the present study was to search for association between the 844ins68 polymorphism of the CBS gene and schizophrenia in a large Russian sample using case-control and family-based designs. The sample comprised 1135 patients, 626 controls and 172 families. There was a trend for association between the 844ins68 polymorphism and schizophrenia in the case-control study, with higher frequency of the insertion in the control group. The FBAT revealed a statistically significant difference in transmission of alleles from parents to the affected proband, with preferential transmission of the variant without insertion. When the sample of patients was stratified by sex and forms of schizophrenia, the significantly lower frequency of insertion was observed in the group of female patients with chronic schizophrenia (n=180) as compared to psychiatrically well women. The insertion variant has been reported earlier to be related to decreased levels of homocysteine and thus thought to play a protective role. In conclusion, our study revealed a possible relation of the CBS 844ins68 polymorphism to schizophrenia.
SCZ Keywordsschizophrenia, schizophrenic, schizophrenics
3Zh Nevrol Psikhiatr Im S S Korsakova 2010 -1 110: 86-9
PMID20559280
Title[Homocysteine-related genes and attention in patients with schizophrenia and schizoaffective psychosis].
AbstractThe elevated level of homocysteine has been repeatedly observed in patients with schizophrenia. Molecular-genetic studies revealed the association between schizophrenia and polymorphisms of two genes - methylenetetrahydrofolate reductase (MTHFR) and cystathionine-beta-synthase (CBS) involved in the conversion of homocysteine to methionine and cysteine, respectively. Authors have studied the association of C677T MTHFR and 844ins68 CBS polymorphisms with attention in 105 schizophrenic patients (56 women and 49 men) by measuring auditory evoked potentials and concentration of attention. Women with a genotype containing an insertion (Ins+) had the shorter latency of N100 in the frontal leads compared to those with the Ins- genotype. The results of the neuropsychological study revealed that women with Ins+ genotypes performed better on the test as well. In conclusion, the 844ins68 CBS polymorphism is associated with attention in patients with schizophrenia.
SCZ Keywordsschizophrenia, schizophrenic, schizophrenics
4Zh Nevrol Psikhiatr Im S S Korsakova 2010 -1 110: 86-9
PMID20559280
Title[Homocysteine-related genes and attention in patients with schizophrenia and schizoaffective psychosis].
AbstractThe elevated level of homocysteine has been repeatedly observed in patients with schizophrenia. Molecular-genetic studies revealed the association between schizophrenia and polymorphisms of two genes - methylenetetrahydrofolate reductase (MTHFR) and cystathionine-beta-synthase (CBS) involved in the conversion of homocysteine to methionine and cysteine, respectively. Authors have studied the association of C677T MTHFR and 844ins68 CBS polymorphisms with attention in 105 schizophrenic patients (56 women and 49 men) by measuring auditory evoked potentials and concentration of attention. Women with a genotype containing an insertion (Ins+) had the shorter latency of N100 in the frontal leads compared to those with the Ins- genotype. The results of the neuropsychological study revealed that women with Ins+ genotypes performed better on the test as well. In conclusion, the 844ins68 CBS polymorphism is associated with attention in patients with schizophrenia.
SCZ Keywordsschizophrenia, schizophrenic, schizophrenics
5Coll Antropol 2010 Apr 34 Suppl 2: 45-8
PMID21305724
TitleWhat associates Charles Bonnet syndrome with age-related macular degeneration?
AbstractCharles Bonnet syndrome (CBS) is a condition related to patients with visual loss due to age related macular degeneration or glaucoma that are having complex visual hallucinations. The CBS was first described by Swiss physician Charles Bonnet in 1760. Affected patients, who are otherwise mentally healthy people with significant visual loss, have vivid, complex recurrent visual hallucinations (VHs). One characteristic of these hallucinations is that they usually are "Lilliputian hallucinations" as patients experience micropsia (hallucinations in which the characters or objects are distorted and much smaller than normal). The prevalence of Charles Bonnet Syndrome has been reported to be between 10% and 40%; a recent Australian study has found the prevalence to be 17.5%. The high incidence of non-reported CBS is thought to be as a result of patient's fear to report the symptoms as they could be labeled as mentally insane since those type of visual hallucinations could be found in variety of psychiatric and neurological disorders such as drug or alcohol abuse (delirium tremens), Alice in Wonderland syndrome (AIWS), psychosis, schizophrenia, dementia, narcolepsy, epilepsy, Parkinson disease, brain tumors, migraine, as well as, in long term sleep deprivation. VHs can also be presented as the initial sign of the Epstein-Barr virus infection in infectious mononucleosis. Patients who suffer from CBS usually possess insight into the unreality of their visual experiences, which are commonly pleasant but may sometimes cause distress. The hallucinations consist of well-defined, organized, and clear images over which the subject has little control. It is believed that they represent release phenomena due to deafferentiation of the visual association areas of the cerebral cortex, leading to a form of phantom vision. Cognitive defects, social isolation, and sensory deprivation have also been implicated in the etiology of this condition. This study was conducted on 350 patients diagnosed with Age-Related Macular Degeneration (AMD) and shows incidence of CBS in 13% of patients with AMD. Furthermore, we have found higher incidence of CBS in patients with massive loss of vision in peripheral visual field which is not age related.
SCZ Keywordsschizophrenia, schizophrenic, schizophrenics
6Orphanet J Rare Dis 2014 -1 9: 65
PMID24775716
TitleDiagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review.
AbstractIt is important for psychiatrists to be aware of certain inborn errors of metabolism (IEMs) as these rare disorders can present as psychosis, and because definitive treatments may be available for treating the underlying metabolic cause. A systematic review was conducted to examine IEMs that often present with schizophrenia-like symptoms.
Published literature on MEDLINE was assessed regarding diseases of homocysteine metabolism (DHM; cystathionine beta-synthase deficiency [CBS-D] and homocysteinemia due to methyltetrahydrofolate reductase deficiency [MTHFR-D]), urea cycle disorders (UCD), acute porphyria (POR), Wilson disease (WD), cerebrotendinous-xanthomatosis (CTX) and Niemann-Pick disease type C (NP-C).
Case reports, case series or reviews with original data regarding psychiatric manifestations and cognitive impairment published between January 1967 and June 2012 were included based on a standardized four-step selection process.
All selected articles were evaluated for descriptions of psychiatric signs (type, severity, natural history and treatment) in addition to key disease features.
A total of 611 records were identified. Information from CBS-D (n?=?2), MTHFR-D (n?=?3), UCD (n?=?8), POR (n?=?12), WD (n?=?11), CTX (n?=?14) and NP-C publications (n?=?9) were evaluated. Six non-systematic literature review publications were also included. In general, published reports did not provide explicit descriptions of psychiatric symptoms. The literature search findings are presented with a didactic perspective, showing key features for each disease and psychiatric signs that should trigger psychiatrists to suspect that psychotic symptoms may be secondary to an IEM.
IEMs with a psychiatric presentation and a lack of, or sub-clinical, neurological signs are rare, but should be considered in patients with atypical psychiatric symptoms.
SCZ Keywordsschizophrenia, schizophrenic, schizophrenics
7Cochrane Database Syst Rev 2014 -1 -1: CD007811
PMID24729184
TitleSulpiride versus placebo for schizophrenia.
AbstractSulpiride is a relatively old antipsychotic drug reputed to have a low incidence of adverse effects and an effect on the negative symptoms of schizophrenia. This relatively inexpensive antipsychotic drug has a similar neuropharmacological profile to several novel atypical drugs.
To evaluate the effects of sulpiride for schizophrenia and other similar serious mental illnesses in comparison with placebo.
We searched the Cochrane schizophrenia Group Trials Register (September 2008) and references of all identified studies for further trial citations. We contacted pharmaceutical companies and authors of trials for additional information. We updated this search 7th November 2012.
We included all randomised controlled trials (RCTs) comparing sulpiride with placebo for people with schizophrenia and other types of schizophrenia-like psychoses. The primary outcome of interest was clinically significant response in global state.
We independently inspected citations and abstracts, ordered papers, re-inspected and quality-assessed these. IMO and JW extracted data. We analysed dichotomous data using a random-effects risk ratio (RR) and estimated the 95% confidence interval (CI) around this. Where continuous data were included, we analysed these data using random-effects mean difference (MD) with a 95% CI.
No new trials were included from the 2012 search. The review still includes two trials of short duration comparing sulpiride with placebo (total n = 113). No study reported our primary outcome of interest of 'global state: clinically significant response', nor our secondary outcomes of interest of 'quality of life', 'severe adverse effects', and 'safety assessments'. As regards mental state, there were no clear differences between groups for either positive or negative symptoms; measured positive symptoms using the Manchester scale were skewed and therefore not included in meta-analysis (n = 18, 1 RCT, very low quality evidence). Measured negative symptoms using the Manchester scale also demonstrated no clear difference (n = 18, 1 RCT, MD -3.0 CI -1.66 to 1.06, very low quality evidence). Few people left these studies by three months (n = 113, 2 RCTs, RR 1.00 CI 0.25 to 4.00). One subscore finding demonstrated a significant improvement in social behaviour using the Current Behaviour Schedule (CBS) when receiving placebo (n = 18, 1 RCT, MD -2.90 CI -5.60 to -0.20). There were no data for many important outcomes such as global outcomes, service use or adverse effects.
Sulpiride may be an effective antipsychotic drug but evidence of its superiority over placebo from randomised trials is very limited. Practice will have to use evidence from sources other than trials until better evidence is generated.
SCZ Keywordsschizophrenia, schizophrenic, schizophrenics
8Neuropsychobiology 2014 -1 69: 107-11
PMID24577139
TitleAre genes connected with homocysteine metabolism associated with bipolar disorder?
AbstractIncreased levels of homocysteine have been observed in various psychiatric disorders, among them in schizophrenia, depression and bipolar mood disorder. Of the genes connected with homocysteine metabolism, some studies have found an association between polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene and bipolar disorder. The aim of this study was to investigate a possible association between 5 polymorphisms of 4 genes coding enzymes of homocysteine metabolism and bipolar disorder.
A total of 120 patients with bipolar disorder (24 male, 96 female) and 167 subjects from the general population (81 male, 86 female) were included in the study. Genotyping was performed for the C677T (rs1801133) and A1298C (rs1801131) polymorphisms of the MTHFR gene, for the T833C polymorphism (rs5742905) of the cystathionine-?-synthase (CBS) gene, for the A2756G polymorphism (rs1805087) of the homocysteine methyltransferase gene, and for the A66G polymorphism (rs1801394) of the methionine synthase reductase (MTRR) gene.
An association with bipolar disorder was found for the T833C polymorphism (rs5742905) of the CBS gene. However, in the patient sample, the genotypes of this polymorphism were not in Hardy-Weinberg equilibrium. No relationship to bipolar disorder was obtained for the remaining polymorphisms studied.
These results are the first suggesting a possible association between T833C polymorphism (rs5742905) of the CBS gene and bipolar disorder. We were unable to confirm an association between bipolar disorder and C677T polymorphism (rs1801133) of the MTHFR gene, as suggested in some previous studies.
SCZ Keywordsschizophrenia, schizophrenic, schizophrenics