Jeremy Silverman

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..Sotos syndrome has been described in a number of patients with autism spectrum disorders, suggesting that NSD1 could be involved in other cases of autism and macrocephaly...

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..Although genetic factors are implicated in AD with substantially earlier onset, the familial characteristics of high-incidence very late-onset AD (VLOAD, defined here as AD with onset age >/=85 years) remain unknown...

..These results suggest that age 90 is an optimal age threshold to use for both men and women in genetic studies seeking to identify genes associated with successful cognitive aging...

..Efforts to identify protective allele-bearing genes that are associated with very late-onset AD should target the families of nonagenarians and centenarians...

..The role of genetic factors in Alzheimer disease (AD) varies across the late life span, complicating efforts to quantify the risk of AD for relatives of probands with AD...

..No other significant differences were observed. The rs2056202 polymorphism may be associated with levels of routines and rituals in autism and related disorders...

..Making distinctions among families by the severity of these features may be useful for identifying more genetically homogeneous subgroups in studies targeted at genes for specific autism-related symptom domains...

..The relationship between onset age and familial aggregation suggests that no single estimate of the age-dependent risk (survival curve) is uniformly appropriate for relatives of AD probands...

..In the present study, genes across the 2q24-q33 interval were analyzed to identify an autism susceptibility gene in this region...

..Future studies should examine the linkage and association of psychosis with genetic variation within these families...

..Specific variants of the 5-HTT gene, SLC6A4, especially the insertion-deletion 5-HTTLPR promoter locus, have been found to modulate its expression and transporter function...

..In summary, we have observed further evidence for linkage and association between autism and loci within the 2q24-q33 region, including at STK39, a novel candidate gene for autism...

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..Future studies are encouraged to examine a variety of other characteristics such as age that may interact with diabetes affecting the incidence of AD...

..The purpose of this article is to provide a description of the COGS structure and methods, including participant recruitment and assessment...

..Genetic studies now often employ multiple, geographically dispersed test sites to accommodate the need for large and complex study samples. Here, we assessed the feasibility of using PPI in multi-site studies...

..The validity of the Hebrew version of the Telephone Interview for Cognitive Status-Modified (TICS-m) for Mild Cognitive Impairment (MCI), for dementia, and for cognitive impairment (either MCI or dementia) was investigated...

..To investigate the effect of PTSD, the authors conducted a 0.5-mg DST, which is more sensitive than the 1.0-mg DST for detection of increased cortisol suppression, in a group of subjects with personality disorders...

..Indeed, SPD subjects comprise the only group not statistically different from schizophrenic patients in quantitative or qualitative ratings...

..Therefore, AMACR is both a positional and functional candidate gene for susceptibility to schizophrenia...

..If this is the case, the identification of modifiable risk factors for dementia becomes a research priority and early intervention aimed at reducing those cardiovascular risk factors a therapeutic imperative...

..Nevertheless, the findings suggest that genetic studies in autism using specific levels of familial autism traits as phenotypes should take into account their intercorrelations and birth order effects embedded in the instrument...

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..Screening of PTEN mutations is warranted in patients with autism and pronounced macrocephaly, even in the absence of other features of PTEN-related tumor syndromes...

..Exploration of the genetic architecture of specific endophenotypes may be a powerful strategy for understanding the genetic basis of schizophrenia...

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..In conclusion, the results of this study suggest that, among these Puerto Rican non-demented nonagenarians, being an APOE epsilon4 allele carrier is associated with better cognition...

..This study sought to evaluate the neuropsychological performance of nondemented nonagenarians residing in Puerto Rico and to compare their results with those of a similar English-speaking sample from New York...

..To examine the association of cholesterol with cognitive functioning in oldest old community dwelling individuals with and without the apolipoprotein e4 (APOE4) allele...

..We report initial results from the COGS dataset of auditory N100 amplitude and gating as candidate endophenotypes...

..The aim of the study was to examine the association of religious education and observance with dementia among participants in the Israeli Ischemic Heart Disease study...

..Whereas AGE receptor-1 (AGER1) reduces OS/infl in animals, this has not been assessed in normal humans...

..To assess the relationships between early and late antemortem measures of dementia severity and Alzheimer disease (AD) neuropathology severity...

..No significant associations were found between serotonin level and the primary behavioral outcome measures. However, a significant inverse relationship between serotonin level and self-injury was demonstrated...

..To examine the association between number of born children and neuropathology of Alzheimer's disease (AD)...

..This may be crucial for understanding the effects on cognition of drugs and other approaches, such as lifestyle change, for treating these risk factors...

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..We hypothesized that SPD patients would demonstrate comparable or lower DA and HPA responses after 2-DG to HV...

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..Body height is affected by childhood conditions that promote growth. The authors examine the relationship of height in midlife and subsequent dementia, Alzheimer disease (AD), and vascular dementia...

..Recent evidence suggests that cross-domain variability in cognition may be related to subsequent cognitive decline beyond mean performance levels in cognitive tasks...

..The authors examined the association between neuropsychological tests of executive functioning and episodic memory and functional disability in nursing home residents versus community-dwelling older adults...

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..The purpose of this study was to examine automatic sensorimotor gating and controlled attentional modulation of the startle eye blink response in unmedicated subjects with schizotypal personality disorder...

..In addition, D(2) receptor dysfunction may play a role in impulsivity, whereas 5-HT(1A) cell-body autoreceptor function may be spared in these disorders...

..Dichotomizing autistic probands by severity and type of repetitive behaviors (circumscribed interests and compulsive rituals) may yield more homogenous groups, which could be helpful in genetic linkage studies...

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..Results from these analyses also lend support to a large body of work that demonstrates that normal and abnormal personality features are related...

..Metabolic rates in Brodmann area 10 were distinctly higher in SPD patients than in either normal volunteers or schizophrenic patients...

..Lower fractional anisotropy (FA), a measure of white-matter integrity within prefrontal, temporal, and cingulate regions has been reported in schizophrenia but has been little studied in SPD...

..Further investigation of brain activation patterns in the oldest old is warranted...

..Genotyping of the shared variants in a Puerto Rican sample of 118 cases and 136 controls did not reveal either allelic or genotype association with schizophrenia...

..The authors examined the relationship of borderline personality disorder to posttraumatic stress disorder (PTSD) with respect to the role of trauma and its timing...

..If schizophrenia susceptibility genes are present on chromosome 1q, their population-wide genetic effects are likely to be small...

..In contrast, performance of NSS patients did not differ from that of HVs. The types of deficits observed in SPD patients are qualitatively similar to but milder than those seen in patients with schizophrenia...

..This study attempted to examine the relationship between month and season of birth and risk for autism spectrum disorders...

..66, p=0.010), and temperature 5 months earlier (r=0.64, p=0.013) that remained significant after correcting for multiple comparisons...

..Thus, it appears unlikely that the TPH1 and TPH2 genes play a significant role in the susceptibility to autism or to autism endophenotypes including sOCB and SSB...

..To identify putative genetic loci related to the risk of late-onset Alzheimer disease (LOAD)...

..Side effects were generally well tolerated, and there was no group difference in dropout rate for side effects. CONCLUSION: Low-dose risperidone appears to be effective in reducing symptom severity in SPD and is generally well tolerated...

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..Maternal and paternal ages are associated with neurodevelopmental disorders...

..Most of these findings have been generated from inpatient clinical samples...

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..10) and Affective Intensity Measure (r=.15) total scores. CONCLUSION: This suggests that nontrauma-related factors may be more predominant in affective dyscontrol in individuals with borderline personality disorder...

..These results confirm previous findings of antisaccade deficits in schizophrenia subjects and support the use of the antisaccade task as a potential schizophrenia endophenotype in multi-site genetic studies...

..3-p15.2, 5p15.2-q13.3, 10p15.3-p14, 10q25.3-q26.3, and 11p13-q23.3. The highest increase in Z(lr) scores was observed for 5p14.1-q12.1, where the maximum Z(lr) increased from 2.77 initially to 3.80 after fine mapping in the EA families...

..Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs...

..These data provide strong preliminary evidence that TRAR4 is a candidate gene for schizophrenia; replication is currently being attempted in additional clinical samples...

..Context processing was strongly associated with working memory and selective attention performance in the SPD individuals...

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..There is greater consistency of linkage results across studies than has been previously recognized. The results suggest that some or all of these regions contain loci that increase susceptibility to schizophrenia in diverse populations...

..Prior screening and thorough education of the subjects probably help to minimize anxiety and dropout...

..CERAD materials and data remain available for those wishing to use them...

..Ultimately, a greatly enlarged longitudinal/genetic study using this population will identify new phenotypes for molecular genetic studies aimed at identifying genes with genetic protective variants. ..

..Power analyses suggest that this study would have excellent power to detect loci associated with lambda sibs of 1.4, and moderate power for a value of 1.3, i.e., loci with relatively small etiologic effects. ..

..The goal of the study is to identify one or more SZ susceptibility genes whose subsequent characterization inmolecular and functional studies will elucidate the pathophysiology and treatment of SZ. ..