Increased prevalence of the seven-repeat variant of the dopamine D4 receptor gene in patients with obsessive-compulsive disorder with tics

Cruz, Carlos; Camarena, Beatríz; King, Nicole; Páez, Francisco; Sidenberg, Deborah Gayle; Fuente, Juan Ramón De La; Nicolini, Humberto

doi:10.1016/s0304-3940(97)00523-5

Cited by 105 publications

(47 citation statements)

References 14 publications

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“…The most frequently occurring numbers of repeats are 4 (4R; 70%), 7 (7R; 20%), and 2 (2R; 5%) (Asghari et al, 1995). The 7R allele has been associated with higher risk of OCD (Taj et al, 2013), with tics in OCD (Cruz et al, 1997), and with reduced ERN amplitude, but comparable Pe in healthy individuals (Biehl et al, 2011).…”

Section: Drd4 Exon 3 Vntrmentioning

confidence: 99%

Neural Markers of Errors as Endophenotypes in Neuropsychiatric Disorders

Manoach¹,

Agam²

2016

Innovations in Cognitive Neuroscience

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Learning from errors is fundamental to adaptive human behavior. It requires detecting errors, evaluating what went wrong, and adjusting behavior accordingly. These dynamic adjustments are at the heart of behavioral flexibility and accumulating evidence suggests that deficient error processing contributes to maladaptively rigid and repetitive behavior in a range of neuropsychiatric disorders. Neuroimaging and electrophysiological studies reveal highly reliable neural markers of error processing. In this review, we evaluate the evidence that abnormalities in these neural markers can serve as sensitive endophenotypes of neuropsychiatric disorders. We describe the behavioral and neural hallmarks of error processing, their mediation by common genetic polymorphisms, and impairments in schizophrenia, obsessive-compulsive disorder, and autism spectrum disorders. We conclude that neural markers of errors meet several important criteria as endophenotypes including heritability, established neuroanatomical and neurochemical substrates, association with neuropsychiatric disorders, presence in syndromallyunaffected family members, and evidence of genetic mediation. Understanding the mechanisms of error processing deficits in neuropsychiatric disorders may provide novel neural and behavioral targets for treatment and sensitive surrogate markers of treatment response. Treating error processing deficits may improve functional outcome since error signals provide crucial information for flexible adaptation to changing environments. Given the dearth of effective interventions for cognitive deficits in neuropsychiatric disorders, this represents a potentially promising approach.

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Section: Drd4 Exon 3 Vntrmentioning

confidence: 99%

Neural Markers of Errors as Endophenotypes in Neuropsychiatric Disorders

Manoach¹,

Agam²

2016

Innovations in Cognitive Neuroscience

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“…One of the most cited papers in this area, 166 however, provided Table 2, some molecular studies support the involvement of the dopaminergic system in this OCD subtype. 113,114 In addition, based on the efficacy of SRIs in OCD, polymorphisms in the promoter region of the serotonin transporter have been studied in OCD pedigrees. 18,177,178 However, no differences in SRI responses were found among the different genotypes studied.…”

Section: Treatment Implicationsmentioning

confidence: 99%

Obsessive-compulsive disorder phenotypes: implications for genetic studies

et al. 2004

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Obsessive-compulsive disorder (OCD) clinical presentation is remarkably diverse, and can vary both within and across patients over time. This variability in the phenotypic expression has led to the hypothesis that OCD is a heterogeneous disorder and that this heterogeneity obscures the findings of clinical, natural history and treatment response studies and complicates the search for vulnerability genes. A complete understanding of what comprises OCD and the underlying etiological mechanisms will require a dramatic change in how the disorder is conceptualized. In this review, several different approaches that may represent the first steps in this reconceptualization are discussed. These approaches include (1) narrowing the phenotype to identify categorically defined more homogeneous and mutually exclusive subtypes of OCD, (2) considering OC symptom dimensions as quantitative components of the more complex OCD phenotype and (3) broadening the phenotype to include other etiologically related conditions. A combined dimensional approach within distinctive subgroups is proposed as probably the most effective in helping to identify the heritable components of OCD. By identifying heritable components of OCD, it should be possible to find genes for these separate components. The review continues with the illustration of the possible role of some epigenetic risk and protective factors in the OCD presentation and the relevance of examining associated traits and/or endophenotypes to enhance our ability to understand the genetic basis of OCD. To conclude, we discuss the variability in treatment outcome and the significance of the development of specific pharmacological and/or behavioral based therapies tailored to each of these phenotypes. Molecular Psychiatry (2005) 10, 258-275.

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“…In the past, research has focused on the manner of inheritance, or the genetic linkage, with very few contributions coming from association studies. There is growing evidence that both autoimmune and genetic factors are involved in the pathogenesis of TS [28][29][30][31][32] although a study tried but failed to identify such a marker by investigating choline in the red blood cells of TS twins and their parents [33]. Therefore, it is considered a trait marker that is indicative of a genetic susceptibility to Tourette's syndrome [33,34].…”

Section: Introductionmentioning

confidence: 99%

Antineural antibody in patients with Tourette’s syndrome and their family members

Yeh

Wu²,

Tsung³

et al. 2005

J Biomed Sci

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SummaryIt has been proposed that antineural antibodies were present in patients with Tourette's syndrome (TS) and other neuropsychiatric disorders. The purpose of our study was to investigate the presence of antineural antibodies in the individuals with Tourette's syndrome and the family members of TS patients. The sera of four TS patients with no current streptococcal infection, their tic-free family members including father, mother and sibling, and a age-matched control group who were tic free were assayed for antineural antibodies directed against rat tissue and neurons in primary cell culture. There were prominent antineural antibodies present in TS patients and their first-degree family members, but not in the control group. Western blotting showed proteins of about 120 kDa in their sera that were not present in the sera of controls. The preliminary results of our study suggest the importance of genetic vulnerability in the immunological pathophysiology of tic disorders. Future studies should investigate the interactions of genetics, environment, infectious agents, and immunity on symptom expression in families with tic disorders.

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Increased prevalence of the seven-repeat variant of the dopamine D4 receptor gene in patients with obsessive-compulsive disorder with tics

Cited by 105 publications

References 14 publications

Neural Markers of Errors as Endophenotypes in Neuropsychiatric Disorders

Neural Markers of Errors as Endophenotypes in Neuropsychiatric Disorders

Obsessive-compulsive disorder phenotypes: implications for genetic studies

Antineural antibody in patients with Tourette’s syndrome and their family members

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