Complex segregation analysis of obsessive compulsive and spectrum related disorders

Cavallini, C; Macciardi, Fabìo; Pasquale, Lorenza; Smeraldi, Enrico; Bellodi, Laura

doi:10.1097/00008877-199505001-00144

Cited by 9 publications

(11 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…For the moment, segregation analysis cannot confirm a defined model of genetic transmission; however, the primary involvement of an autosomal dominant gene has been proposed [54]. This report is consistent with the general hypothesis that OCD phenotypes may be due to one or more dominant genes and to a secondary multigenic component, with a mendelian-like pattern.…”

Section: Family Studiessupporting

confidence: 61%

Obsessive-Compulsive Disorder in Childhood and Adolescence

Presta¹,

Marazziti²,

Dell’Osso³

et al. 2003

Psychopathology

View full text Add to dashboard Cite

Obsessive-compulsive disorder (OCD) is a common psychiatric condition during childhood and adolescence, which continues to be underestimated and undertreated. For these reasons, it constitutes a primary cause of major disabilities in those ages and, sometimes, of permanent impairments later on. In these last few years, childhood and adolescence OCD has attracted an increasing focus which has promoted a deeper awareness of this illness, a better recognition with earlier interventions, as well as the set-up of more tailored and specific strategies, including psychotropic drugs. The aim of this paper is to present a critical review of paediatric OCD, with a special attention towards the most compelling reports available up to now and towards the most interesting areas for future research.

show abstract

Section: Family Studiessupporting

confidence: 61%

Obsessive-Compulsive Disorder in Childhood and Adolescence

Presta¹,

Marazziti²,

Dell’Osso³

et al. 2003

Psychopathology

View full text Add to dashboard Cite

show abstract

“…A number of segregation studies support a single major locus with dominant inheritance in TS [Devor, 1984; Pauls et al, 1990; Curtis et al, 1992; Cavallini et al, 1995]. However, some studies could not rule out multifactorial polygenic inheritance [Kidd and Pauls, 1982; Comings et al, 1984] and intermediate models (lower penetrance for heterozygotes of the disease gene than homozygotes) have also been supported [Hasstedt et al, 1995; Walkup et al, 1996].…”

Section: Resultsmentioning

confidence: 99%

Chromosome 5 and Gilles de la Tourette syndrome: Linkage in a large pedigree and association study of six candidates in the region

Laurin

Wigg

Feng

et al. 2008

American J of Med Genetics Pt B

View full text Add to dashboard Cite

Gilles de la Tourette Syndrome (TS) is a neuropsychiatric disorder characterized by both motor and vocal tics. In our previous genome scan for TS we identified evidence for linkage to the centromeric region of chromosome 5 in a single large family of 32 individuals with 10 family members with TS or chronic multiple tics (CMT). In this paper we report further analyses of the 5p-centromeric region in this pedigree. An additional 11 family members were identified and screened for TS. Using a set of 14 microsatellite markers we refined the linked region to a approximately 28 Mb interval between the markers D5S1506 and D5S76. A set of six candidate genes located in this region were selected to be tested for genetic association with TS. These genes were GDNF, ITGA1, ISL1, FGF10, HCN1 and SLC1A3. The TDT statistic was used for the association tests in a sample of 171 independent nuclear families with 241 affected children with TS. We found no evidence for an association between TS and markers in these genes in this sample of families. This study represents the first efforts to narrow the linkage region in the extended pedigree and the first tests of candidate genes in the chromosome 5 region linked to TS.

show abstract

“…Several studies have found that the prevalence of OCD is substantially greater in relatives of OCD probands with onset of symptoms before the age of 18 years, compared to relatives of probands with later age at onset (Pauls et al, 1995;Nestadt et al, 2000a). Results from several segregation analyses of OCD pedigrees are consistent with involvement of a dominant or codominant gene or genes of major effect in at least some families (Cavallini et al, 1999), especially in families ascertained through a female proband (Nestadt et al, 2000b).…”

Section: Introductionmentioning

confidence: 92%

The OCD collaborative genetics study: Methods and sample description

Samuels

Riddle

Greenberg

et al. 2006

American J of Med Genetics Pt B

View full text Add to dashboard Cite

Results from twin and family studies suggest that obsessive-compulsive disorder (OCD) may be transmitted in families but, to date, genes for the disorder have not been identified. The OCD Collaborative Genetics Study (OCGS) is a six-site collaborative genetic linkage study of OCD. Specimens and blinded clinical data will be made available through the National Institute of Mental Health (NIMH) cell repository. In this initial report, we describe the methods of the study and present clinical characteristics of affected individuals for researchers interested in this valuable resource for genetic studies of OCD. The project clinically evaluated and collected blood specimens from 238 families containing 299 OCD-affected sibling pairs and their parents, and additional affected relative pairs, for a genome-wide linkage study. Of the 999 individuals interviewed to date, 624 were diagnosed with "definite" OCD. The mean age of subjects was 36 years (range 7-95). The majority of affected individuals (66%) were female. The mean age at onset of obsessive-compulsive symptoms was 9.5 years. Specific mood disorders, anxiety disorders, eating disorders, and skin picking were more prevalent in female cases, whereas tics, Tourette disorder, and alcohol dependence were more prevalent in male cases. Compared to "definite" cases of OCD, "probable" cases (n=82) had, on average, later age at onset of obsessivecompulsive symptoms, lower severity score, and fewer numbers of different categories of obsessions and compulsions, and they were less likely to have received treatment for their symptoms.

show abstract

Complex segregation analysis of obsessive compulsive and spectrum related disorders

Cited by 9 publications

References 0 publications

Obsessive-Compulsive Disorder in Childhood and Adolescence

Obsessive-Compulsive Disorder in Childhood and Adolescence

Chromosome 5 and Gilles de la Tourette syndrome: Linkage in a large pedigree and association study of six candidates in the region

The OCD collaborative genetics study: Methods and sample description

Contact Info

Product

Resources

About