Dopamine and norepinephrine are implicated in the characterization of personality traits. Dopamine-β-hydroxylase (DBH) is the enzyme responsible for conversion of dopamine to norepinephrine. Previous studies have shown that the -1021C/T polymorphism of the DBH gene promoter influences plasma DBH activity. Few studies investigated the association between this polymorphism and personality traits.

To examine the association between the -1021C/T DBH polymorphism and personality traits in healthy volunteers.

The participants were 627 Japanese unrelated volunteers. The subjects with present psychiatric disorders or past history of psychiatric disorders according to the DSM-IV were excluded. The DBH genotypes were identified by a PCR-RFLP method, and personality traits were assessed by the Temperament and Character Inventory (TCI). The study protocol was approved by the Ethics Committee of Yamagata University School of Medicine, and all subjects provided written informed consent to participate.

In the two-factor analysis of covariance with the DBH genotype and sex as factors and with age as a covariate, there was no main effect of the DBH genotype on any TCI score, while the interaction between the factors was significant in harm avoidance. In the post-hoc analysis, the group with the T allele predictive of lower DBH activity had higher scores of harm avoidance than that without the T allele in females (p=0.006), but not in males.

The present study suggests that the -1021C/T DBH polymorphism affects the personality trait of harm avoidance in healthy females.

Previous studies have shown that the function of hypothalamic-pituitary-adrenal (HPA) axis is involved in the characterization of personality traits. Glucocorticoid receptor (GR) is the most important regulator of the HPA axis negative feedback system, and several polymorphisms of the GR gene are associated with altered glucocorticoid sensitivity. In the present study, we examined the associations between the GR polymorphisms and personality traits in healthy subjects.

Subjects were 880 Japanese healthy volunteers. Personality traits were assessed by the Temperament and Character Inventory (TCI). Two polymorphisms of the GR gene, i.e., G/C SNP in the intron 2 (BcII polymorphism, rs41423247) and A/G SNP in the exon 9β (9β polymorphism, rs6198), were detected by a real-time PCR and cycling probe technology for SNP typing.

The genotype distributions were G/G = 614, G/C = 240, and C/C = 26 for the BcII polymorphism, and A/A = 879 and A/G = 1 for the 9β polymorphism, respectively. There were no significant associations between the BcII genotype groups in any TCI dimension score.

The present study suggests that these two GR polymorphisms (BcII and 9β polymorphism) are not involved in the characterization of personality traits in healthy subjects.

Previous studies have indicated association of schizophrenia candidate genes with cognition both in patients with schizophrenia and healthy individuals. In the same sample we have shown differential association of candidate genes with symptom severity in patients.

To test the most extensively researched schizophrenia candidate genes for association with domain-specific cognitive functions.

Cognitive functioning was assessed in a subsample of 263 patients with a DSM-IV diagnosis of schizophrenia and 135 healthy controls by a neuropsychological test-battery measuring the domains of sustained vigilance/attention, working memory, short-term memory, verbal memory, cognitive flexibility, and ideation fluency. Using the raw neuropsychological measures we calculated a global index of cognitive impairment and domain-specific composite z-scores. Clinical assessment was performed using the Schedule for Deficit Syndrome and the Positive and Negative Symptom Scale. DNA samples were genotyped for polymorphisms of the candidate genes NRG1, DTNBP1, RGS4, G72/G30 and PIP5K2A. Association between the above composite scores and the SNPs was examined using the General Linear Model (GLM) analysis.

The preliminary analyses uncovered statistically significant associations between DTNBP1 rs909706 and the global index of cognitive impairment (F = 3,39; p = 0,03), and cognitive flexibility (F = 4,81; p = 0,01), and DTNBP1 rs1011313 and short-term memory (F = 3,66; p = 0,02). Moreover RGS4 rs10917670 was associated with working-memory (F = 4,28; p = 0.01). We found no association of NRG1, G72/G30 or PIP5K2A with the domains of cognitive functioning.

Our results support the association of DTNBP1 and RGS4 candidate genes with cognition, as a possible endophenotype of schizophrenia.

A growing interest in the potential role of polyamines in stress, mood disorders and suicidal behavior has recently emerged. In particular, the expression of polyamine's rate-limiting catabolic enzyme (SAT-1, Spermidine/spermine N1-acetyltransferase-1) may be reduced in ventral prefrontal cortex and posterior cyngulate gyrus of patients who committed suicide. However, there is some controversy regarding the involvement of potential cis-acting loci controlling SAT-1 gene expression (rs6526342 or rs17286006) in suicidal behavior. Moreover, a significant association between SAT-1 rs1960264 SNP and anxiety disorders has been found in a male caucasian spanish sample.

In order to test the potential association of SAT-1 -1415T/C SNP (rs1960264) with suicidal behavior, genotype frequencies for that SNP were compared between 193 suicidal attempters (126 female and 67 male) and 650 non-suicidal patients (314 female and 336 male) from an in-patient sample.

We could not find a significant difference in the distribution of the genotypes for rs1960264 SNP between suicide attempters versus non-suicidal individuals (Linear-by-Linear association X2 = 0,203; df = 1; P = 0,652, females; Linear-by-Linear association X2 = 0,000; df = 1; P = 0,990, males). Neither could we demonstrate a relationship between rs1960264 genotype and past history of suicidal attempts (Linear-by-Linear association X2 = 2,966 ; df = 1; P = 0,085, females; Linear-by-Linear association X2 = 1,171; df = 1; P = 0,279, males).

Although we did not find a link between rs1960264 genotype and suicidal behavior, SAT-1 may be an interesting target to investigate the biology of this phenotype. Future studies should take into account other genetic polymorphisms at SAT-1, and definitively evaluate whether or not rs6526342 and rs1960264 have any functional implications.

Growth-associated protein 43 (GAP-43) was critical for initial establishment or reorganization of synaptic connections, a process thought to be disrupted in schizophrenia. Abnormal GAP-43 expression has been linked to this disorder in numerous postmortem brain studies. The purpose of this study was to investigate the involvement of the gene encoding GAP-43 in the susceptibility to schizophrenia.

We searched for genetic variants in the promoter region and 3 exons (including both UTR ends) of the GAP-43 gene using direct sequencing in a sample of Han Chinese schizophrenic patients (n = 354) and non-psychotic controls (n = 338) from Taiwan, and conducted a case-control association study.

We identified 11 common SNPs in the GAP-43 gene. SNP and haplotype-based analyses showed no association with schizophrenia. Besides, we identified 4 rare variants in 4 out of 354 patients, including 1 variant located at the promoter region, 1 synonymous and 2 missense variants located at exon 2. No rare variants were found in the control subjects. Collectively, these rare variants were significantly overrepresented in the patient group (1.1% v.s 0; p value of Fisher’s exact test = 0.02), suggesting they may increase the genetic burden in schizophrenia.

Although the functional significance of these rare variants remained to be characterized, our study lent support to the hypothesis of multiple rare mutations in schizophrenia, and provided genetic clues to indicate the involvement of neurodevelopment defect in this disorder.

Previous studies have shown that the function of hypothalamic-pituitary-adrenal (HPA) axis is involved in the characterization of personality traits. FK506-binding protein 51 (FKBP51 or FKBP5) is a co-chaperone of heat-shock protein 90, and plays an important role in the negative feedback regulation of HPA axis function. It has been reported that a C/T single nucleotide polymorphism in the intron 2 of FKBP5 gene (rs1360780) affects FKBP5 protein levels and cortisol response to dexamethasone and psychological stress tests. Therefore, it is hypothesized that the FKBP5 polymorphism affects personality traits. In the present study, we studied the association between this polymorphism and personality traits in healthy subjects.

Subjects were 826 Japanese healthy volunteers. Personality traits were assessed by the Temperament and Character Inventory (TCI), and the FKBP5 genotype was detected by a real-time PCR and cycling probe technology for SNP typing.

In total subjects, the group with the T allele predictive of impaired negative feedback regulation of the HPA axis had higher scores of harm avoidance (p = 0.043) and lower scores of cooperativeness (p = 0.019) compared to that without the T allele. The T allele was associated with higher scores of harm avoidance in females (p = 0.020) and lower scores of cooperativeness in males (p = 0.015).

The present study thus suggests that the FKBP5 polymorphism affects harm avoidance and cooperativeness in healthy subjects, with gender specificity.

There is a growing body of data suggesting the gene-environment interaction in the characterization of personality traits, but variation in ordinary parental rearing among environmental factors has not been focused yet. We examined the effects of the interaction between the brain-derived neurotrophic factor (BDNF) Val66Met polymorphism and parental rearing on personality traits.

Subjects were 710 Japanese healthy volunteers. Perceived parental rearing was assessed by the Parental Bonding Instrument (PBI), which consists of the care and protection factors. Personality assessment was performed by the Temperament and Character Inventory (TCI), which has 7 dimensions, i.e., novelty seeking, harm avoidance, reward dependence, persistence, self-directedness, cooperativeness, and self-transcendence. The BDNF Val66Met polymorphism was detected by the PCR-RFLP method.

Parental rearing has significant main effects on all TCI dimensions except novelty seeking, while no significant main effects of the BDNF genotype on the TCI scores were found. The interaction between the BDNF genotype and maternal care of the PBI had significant effects on harm avoidance and self-directedness of the TCI. Post-hoc analyses showed that decreased maternal care was correlated with increased harm avoidance and decreased self-directedness in most of the genotype groups, and for both personality traits the correlation was highest in the Met/Met genotype and lowest in the Val/Val genotype and that for the Val/Met genotype was in between the two values.

The present study suggests that the BDNF Val66Met polymorphism moderates the effects of parenting rearing, especially maternal care, on harm avoidance and self-directedness in healthy subjects.

Autosomal recessive ataxia of Charlevoix-Saguenay (ARSACS) is characterized by early onset cerebellar ataxia, lower limb spasticity, and sensorimotor axonal polyneuropathy. Early atrophy of the superior cerebellar vermis is always present. Molecular linkage analysis found that the ARSACS gene is located on chromosome 13q12. Cloning of the gene, SACS, demonstrated that it encodes the protein sacsin.

Systematic evaluation of neurological, neuropsychiatric and neuropsychological features in two male siblings.

Investigation of the putative relationship between cerebellar dysfunction and affective symptoms.

Detailed neuropsychiatric and neuropsychological assessment.

The first patient, aged 55, the disease started in early infancy and a severe progressive cerebellar syndrome with spasticity of the legs and axonal polyneuropathy developed. In his brother, aged 50, the debut of neurological symptoms was in preadolescence with a less severe deterioration over time. Cognitive functioning was only marginally impaired in the latter patient, whereas behavioural aberrations were present in the first patient only. Both patients showed a reduced cognitive and emotional responsivity to environmental events leading to impairments in several areas of daily life, such as lack of effort and strategic planning, as well as impulsivity and impoverished social interaction with emotional indifference. This symptom profile typically points towards the presence of an apathy syndrome.

In ARSACS, in addition to the motor impairments, it may be postulated that the cerebellar cognitive affective syndrome is present. Thus, this hereditary form of ataxia may be accompanied by a series of non-motor symptoms of which motivational and affective signs dominate. \

Submicroscopic deletions of the distal long arm of chromosome 9q are relatively common and give rise to a clinically recognizable phenotype referred to as the Kleefstra Syndrome [OMIM 610253]. It was shown that haploinsufficiency of the EHMT1 (Euchromatic Histone Methyltransferase 1) gene is responsible for the core phenotype by identifying cases with intragenic EHMT1 loss of function mutations. Key features of the syndrome are mental retardation, childhood hypotonia and facial dysmorphisms. Congenital heart and renal defects, microcephaly, epilepsy, and behavioural problems are frequently present.

Description of the developmental, behavioural and neuropsychiatric characteristics in 4 middle aged patients with recently diagnosed Kleefstra syndrome

Contributing to the putative behavioural phenotype of Kleefstra syndrome.

Detailed neuropsychiatric and neuropsychological assessment.

In the 4 patients, conventional cytogenetic investigation showed normal karyotypes. With routine subtelomeric MLPA and additional 9q regional specific MLPA tests, a submicroscopic deletion of the long arm of chromosome 9 (9q34.3) was found. Both deletions comprised the EHMT1 gene, in agreement with the diagnosis of Kleefstra syndrome. In all patients a severe apathy and a marked dyssomnia were present. Although some motor symptoms could be assessed with a catatonia rating scale, these have to be considered as a consequence of the apathy and belong therefore not to the catatonic spectrum.

Kleefstra syndrome is constituted, in addition to its distinct phenotypic features, by a specific behavioural phenotype that comprises, apart from the absence of speech development, a specific sleep disturbance and severe apathy from the third decade on.

Noonan syndrome (NS) is an autosomal dominant genetic disorder with an estimated incidence of 1:1,500 live births and is characterized by short stature, facial dysmorphisms and congenital heart defects. At present, mutations in seven different genes have been identified. NS is associated with impaired affective processing and subsequently increased levels of anxiety.

Neuropsychological investigation of social cognition.

The use of neuropsychological assessment as a tool for studying the contribution of cognition and behaviour to the expression of the Noonan phenotype.

Forty adult NS-patients and a matched group of healthy controls underwent extensive neuropsychological assessment. Next to the standard cognitive domains (i.e. intelligence, attention, memory, executive functioning) several tests for social cognition were included to explore affective information processing. Correlation analysis and repeated measures MANCOVA were used.

Marked problems were found in the recognition of own and other's emotions, as well as in the ability to verbally express feelings. Alexithymia was significantly more prevalent in the NS-group. In addition, NS-patients displayed more mood and anxiety complaints than controls. A tendency was found to social desirability and agreeableness.

Impairments in social cognition are common elements of NS behavioural phenotype in adults. With neuropsychological assessment, psychosocial immaturity, amenable traits and alexithymia could be identified. The latter increases the vulnerability for the development of mood and anxiety disorders.

Substantial evidence from family, twin, and adoption studies corroborates implication of genetic and environmental factors, as well as their interactions, on suicidal behavior and alcoholism risk. Serotonergic disfunction seems to be involved in the pathophysiology of substance abuse, and has also an important role in suicidal behavior.

Recent studies of the tryptophan hydroxylase 2 (TPH2) showed mild or no association with suicide and alcohol-related suicide.

Investigation of the role of five single nucleotide polymorphisms (SNPs), one functional (p.Arg441His), two in intron 5 (Rs1843809, Rs1386493), and two in the 5’ regulatory promoter region (Rs4131348, Rs11178997) of TPH2, in association with suicide and alcohol-related suicide on a population with one of the highest suicide rates in the world.

We performed qRT-PCR (Real-Time Polymerase Chain Reaction) genotyping analysis of SNPs and alcohol analysis on 388 suicide victims and 227 controls.

The results showed association between suicide (P(X2) = 0.043) and alcohol-related suicide (P(X2) = 0.021) for SNP Rs1843809. A tendency for association was determined also for polymorphism Rs1386493 (P(X2) = 0.055) and alcohol-related suicide. Data acquired from psychological autopsies in a subsample of suicide victims (n = 79) determined more impulsive behavior (P(X2) = 0.016) and verbal aggressive behavior (P(X2) = 0.025) in the subgroup with alcohol misuse or dependency.

Our results suggest implication of polymorphisms in suicide and alcohol-related suicide, but further studies are needed to clarify the interplay among serotonergic system disfunction, suicide, alcohol dependence, impulsivity and the role of TPH2 enzyme.

Older people with special challenges such as increased chronic problems reduced financial resources and reduced functional abilities have encountered.

This study group as if the memory effect on self-esteem, mental health and quality of life for elderly people has been done.

Research methods, experimental. Statistical Society Research Babol are elderly. Sample aged 60 to cluster all the city neighborhoods selected randomly into two experimental groups (30 patients) and control (n = 30) groups. Then each of the experimental and control groups also were divided into six groups. Seniors in the experimental group meetings as if the memory control group, but group sessions in eight sessions and each session for one and a half hours they attended.

The results show that the experimental group participated in group meetings as if the memory than the control group who participated in group sessions, having self-esteem, mental health and quality of life are at a high level. The results also show that the mental health subscales (physical impairment, impaired social function, anxiety and depression) compared to the experimental group had better control of the situation.

Seniors expressed their memories in a group, their positive and negative emotions poured out, and now that this reconciliation will lead to attitude change are elderly. On the other hand seems to have an active role in memory leads to increased confidence and improving mental health and sense of usefulness and the elderly are a result of depression and anxiety decreased.

Depression is common in nursing home residents, but is still underrecognized. Screening for depression could be a first step to increase recognition rates within this high-risk group.

Therefore, we investigated the validity of the WHO (Five) Well-Being Index (WHO-5) for early detection of depression in nursing home residents.

The Structural Clinical Interview for DSM-IV (SCID) was used as the gold standard for the validation of the WHO-5. The diagnoses covered in this assessment were both current major depression (MD) as well as minor depression (MinD) according to DSM-IV research criteria.

In our sample of 92 nursing home residents in Munich aged 65–97 years, (73.9% female, 26.1% male) 14.1% fulfilled the criteria of MinD, and again 14.1% fulfilled the criteria of MD in the SCID. Overall diagnostic validity (area under the ROC curve) of the WHO-5 was 90.1% (95% confidence interval: 83.5%–96.7%). The World Health Organization's recommended cut-off-point of 13 yielded a sensitivity of 92.3% for the category of ‘MinD or MD’, and a specificity of 74.2%. Corresponding values for an adapted cut-off point of 12 are 92.3% and 78.7%, respectively.

The diagnostic accuracy of the WHO-5 in our study is promising. The WHO-5 might be an efficient screening tool for nursing home residents, especially with the adapted cut-off point, but results have to be replicated in a larger sample.

Mood disturbances are often found in stroke patients and have a negative impact both on the recovery and the outcome of the stroke. Depression is the most common neuropsychiatric complication in the poststroke population, affecting nearly 30%–50% of patients within the first year. PSD implies a significant burden on both patients and their caregivers.

Using the search engines Pubmed and Scopus, 20 papers regarding the elderly dated from 2002–2010 were reviewed using the keywords depression, poststroke, recovery after stroke.

The core features of PSD include but are not limited to: persistent sadness, feelings of hopelessness, helplessness and worthlessness, guilt and sense of being a burden on the caregiver, lack of motivation, loss of interest, death wishes and suicidal ideation. Various cerebrovascular risk factors, including hypertension, atherosclerotic heart disease, hyperlipidemia and diabetes mellitus have been implicated as risks for depression in late life.

Other predisposing factors are: prior history of depression or anxiety disorder, certain personality traits, baseline dementia but also, social isolation, living alone, physical functional impairments or a history of other psychiatric disorder.

Depression may impede recovery from stroke and impair outcome by affecting social functioning, motor abilities, cognitive functions and quality of life, thus it is important to early diagnose and prevent PSD.