“…Furthermore, lentiviralmediated expression of Sapap3 in the striatum prevented synaptic defects, as well as compulsive grooming and anxiety-related behaviors, demonstrating that loss of Sapap3 in the striatum is central to the behavioral phenotype of Sapap3 mutant mice. Given the confluence of these findings with what is known about OCD in humans, it was hypothesized that Sapap3 might be involved in the etiology of human obsessive-compulsive spectrum disorders [Hollander and Benzaquen, 1997;Welch et al, 2007].…”
SAP90/PSD95-associated protein (SAPAP) family proteins are post-synaptic density (PSD) components that interact with other proteins to form a key scaffolding complex at excitatory (glutamatergic) synapses. A recent study found that mice with a deletion of the Sapap3 gene groomed themselves excessively, exhibited increased anxiety-like behaviors, and had corticostriatal synaptic defects, all of which were preventable with lentiviral-mediated expression of Sapap3 in the striatum; the behavioral abnormalities were also reversible with fluoxetine. In the current study, we sought to determine whether variation within the human Sapap3 gene was associated with grooming disorders (GDs: pathologic nail biting, pathologic skin picking, and/or trichotillomania) and/or obsessive-compulsive disorder (OCD) in 383 families thoroughly phenotyped for OCD genetic studies. We conducted family-based association analyses using the FBAT and GenAssoc statistical packages. Thirty-two percent of the 1,618 participants met criteria for a GD, and 65% met criteria for OCD. Four of six SNPs were nominally associated (P < 0.05) with at least one GD (genotypic relative risks: 1.6-3.3), and all three haplotypes were nominally associated with at least one GD (permuted P < 0.05). None of the SNPs or haplotypes were significantly associated with OCD itself. We conclude that Sapap3 is a promising functional candidate gene for human GDs, though further work is necessary to confirm this preliminary evidence of association.
“…Furthermore, lentiviralmediated expression of Sapap3 in the striatum prevented synaptic defects, as well as compulsive grooming and anxiety-related behaviors, demonstrating that loss of Sapap3 in the striatum is central to the behavioral phenotype of Sapap3 mutant mice. Given the confluence of these findings with what is known about OCD in humans, it was hypothesized that Sapap3 might be involved in the etiology of human obsessive-compulsive spectrum disorders [Hollander and Benzaquen, 1997;Welch et al, 2007].…”
SAP90/PSD95-associated protein (SAPAP) family proteins are post-synaptic density (PSD) components that interact with other proteins to form a key scaffolding complex at excitatory (glutamatergic) synapses. A recent study found that mice with a deletion of the Sapap3 gene groomed themselves excessively, exhibited increased anxiety-like behaviors, and had corticostriatal synaptic defects, all of which were preventable with lentiviral-mediated expression of Sapap3 in the striatum; the behavioral abnormalities were also reversible with fluoxetine. In the current study, we sought to determine whether variation within the human Sapap3 gene was associated with grooming disorders (GDs: pathologic nail biting, pathologic skin picking, and/or trichotillomania) and/or obsessive-compulsive disorder (OCD) in 383 families thoroughly phenotyped for OCD genetic studies. We conducted family-based association analyses using the FBAT and GenAssoc statistical packages. Thirty-two percent of the 1,618 participants met criteria for a GD, and 65% met criteria for OCD. Four of six SNPs were nominally associated (P < 0.05) with at least one GD (genotypic relative risks: 1.6-3.3), and all three haplotypes were nominally associated with at least one GD (permuted P < 0.05). None of the SNPs or haplotypes were significantly associated with OCD itself. We conclude that Sapap3 is a promising functional candidate gene for human GDs, though further work is necessary to confirm this preliminary evidence of association.
“…A standard pharmacological approach for TTM, however, is far from being established, and in the case of SSRIs, a double blind study failed to show partial efficacy of SSRI treatment [14]. It has been proposed that TTM is a heterogeneous disorder which overlaps with both OC spectrum disorders [6][7][8] and addictive disorders [22,23], and some authors have hypothesized that there are specific subtypes of tricotillomania with specific patterns of treatment response within this population [8].…”
Section: Discussionmentioning
confidence: 99%
“…TTM is classified as an impulse control disorder since the early 90's, and is believed to be related to Obsessive Compulsive Spectrum Disorders [5][6][7]. A genetic link between the disorders had been identified, with increased rate of OCD among relatives with TTM [8].…”
Objectives. Tricotillomania (TTM) is more common than expected. SSRI's are the treatment of choice in TTM. However, response rates are lower with SSRI's. The aim of our study is to explore other pharmacological interventions. Materials and Methods. Nine female TTM patients with SSRI treatment failure were included. Sample was treated with bupropion SR up to 450 mg/day. Results. Six out of nine patients responded well to bupropion SR. Massachusetts General Hospital Hair Pulling Scale (MGH) demonstrated a significant improvement at the twelve week point (f: 32.3, power: 1, lambda: 97.1, P < .0001) and the response rates remained stable at sixteen-month follow up visit. Conclusions. Bupropion SR could be an alternative pharmacological treatment for TTM. Larger samples with double blind placebo controlled design are needed to confirm our preliminary report.
“…relato de Caso introdução A existência de um espectro obsessivo-impulsivo, com o transtorno obsessivo-compulsivo (TOC) em um de seus extremos e os transtornos de controle do impulso (TCI) no pólo oposto, tem sido objeto de intensa discussão na literatura (Hollander e Wong 1995). Esse espectro englobaria transtornos que apresentam em comum uma incapacidade para postergar ou inibir comportamentos repetitivos, e uma resposta supostamente positiva ao tratamento com inibidores da recaptação de serotonina (IRS).…”
unclassified
“…Esse espectro englobaria transtornos que apresentam em comum uma incapacidade para postergar ou inibir comportamentos repetitivos, e uma resposta supostamente positiva ao tratamento com inibidores da recaptação de serotonina (IRS). Segundo o modelo hipotético proposto por Hollander e Wong (1995), o TOC seria caracterizado por hiperfrontalidade, aumento da função serotoninérgica e comportamentos repetitivos conduzidos, com o objetivo de evitar acontecimentos desagradáveis. Já os TCI estariam associados à hipofrontalidade, diminuição da função serotoninérgica e comportamentos repetitivos que resultam eventos desagradáveis.…”
Palavras-chaveTranstorno obsessivocompulsivo, parafilia, transtorno de controle de impulsos.
resumoCom o intuito de elucidar a relação entre transtornos do controle de impulsos (TCI) e transtorno obsessivo-compulsivo (TOC), faz-se mister estudar subgrupos mais clinicamente homogêneos de transtornos impulsivos. Por meio do relato de quatro casos de pacientes com TOC e diferentes tipos de transtornos parafílicos (fetichismo transvético, sadismo, ginandromorfofilia e exibicionismo), são discutidos os conceitos de compulsividade, impulsividade e a relação temporal entre ambos. O estudo dos casos aqui descritos mostra que (1) pacientes com TOC e transtornos parafílicos tendem a desenvolver o TOC primeiro, (2) diante de desejos, fantasias ou atos sexuais parafílicos, pacientes com TOC podem lançar mão de comportamentos tipicamente compulsivos, (3) pacientes com TOC e obsessões sexuais egodistônicas podem desenvolver desejos, fantasias ou atos sexuais parafílicos de conteú-do semelhante ao das obsessões, (4) em um mesmo paciente, TOC e parafilias podem apresentar cursos independentes, e (5) pacientes com TOC e parafilias podem não apresentar obsessões sexuais. O sofrimento de pacientes com TOC e parafilias justifica a investigação continuada de tais condições no intuito de elucidar os mecanismos que subjazem esta associação e de criar estratégias que aumentem a adesão ao tratamento. OCD and comorbid paraphilias (transvestic fetishism, sadism, gynandromorphophilia, and exhibitionism) as reference-points, we discuss the concepts of compulsivity, impulsivity, and the temporal relationship between them. The case studies here described suggest that (1)
abstraCt
In order to elucidate the relationship between impulse control disorders and obsessive-compulsive disorder (OCD), it is essential to study more clinically homogenous subgroups of patients with impulsive disorders. Using four cases of patients with
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