Genomic imprinting and anticipation in idiopathic torsion dystonia.

Idiopathic torsion dystonia (ITD) is a dominantly inherited disorder with variable penetrance and expressivity. Factors affecting the penetrance of the ITD gene have not yet been identified. The present study used four published series of cases to test specific hypotheses regarding factors that could affect the expression of ITD.

Familial relationship between Gilles de la Tourette's syndrome, attention deficit disorder, learning disabilities, speech disorders, and stuttering.

Objective: This study examined the familial relationship between Gilles de la Tourette's syndrome (GTS) and attention deficit disorder (ADD), learning problems, speech disorders, and stuttering.

Method: This family study consisted of 338 first degree relatives of 85 GTS probands and 113 controls. All available relatives were personally assessed using structured interviews, and family history information was collected from all family members.

An epidemiologic study of Gilles de la Tourette's syndrome in Israel.

Objectives: The goal of this study was to estimate the lifetime prevalence of Gilles de la Tourette's syndrome (GTS) in adolescents aged 16 to 17 years.

Design: Population-based epidemiologic study.

Subjects: Eighteen thousand three hundred sixty-four males and 9673 females aged 16 to 17 years screened for induction into the Israel Defense Force.

Complex segregation analysis of antibodies to thyroid peroxidase in Old Order Amish families.

Autoimmune thyroid disease (AITD) may be characterized by the measurement in serum of antibodies to thyroid peroxidase. A population of Old Order Amish individuals and families was investigated to determine the prevalence of these antibodies and to examine hypotheses about the mode of transmission of thyroid antibodies. Complex segregation analyses were performed on 4 large multigenerational Old Order Amish families composed of 26 nuclear families containing 199 first degree relatives.

Usefulness of twin studies for exploring the etiology of childhood and adolescent psychiatric disorders.

It is estimated that approximately 12% of the individuals under the age of 18 in the United States have a diagnosable mental illness [Institute of Medicine, 1989]; however, only a minority of the etiological research in psychopathology focuses on disorders with childhood onset. The present report demonstrates the usefulness of twin studies in exploring the etiology of childhood and adolescent psychiatric psychopathology and reviews the design, methodology, and results from traditional twin studies of various behavioral disorders. Alternative twin designs are also reviewed in an effort to address the future direction of twin studies in the area of childhood and adolescent psychopathology and to illustrate that twin data have much more to offer the field of psychopathology than merely an initial test to rule in or to rule out a significant genetic contribution to the development of such behaviors.

Evidence for autosomal dominant transmission in Tourette's syndrome. United Kingdom cohort study.

Complex segregation analyses were performed on families ascertained through 40 unselected consecutive patients with Tourette's syndrome to examine the hypothesis that its transmission is consistent with genetic inheritance. Analyses were done using several diagnostic classifications. All results were consistent with an autosomal dominant gene with high penetrance.

Exclusion of close linkage of Tourette's syndrome to D1 dopamine receptor.

Objective: The authors' goal was to establish if a mutation in D1 dopamine receptor locus (DRD1), or one genetically close to it, could cause Gilles de la Tourette's syndrome.

Method: DRD1 and linked markers (D5S36, D5S61, and D5S62) were studied in a large Mennonite Tourette's syndrome kindred. Only individuals with the full Tourette's syndrome were considered to be affected in one series of analyses; in another series the diagnostic spectrum was broadened to include chronic multiple tics.

The genetics of obsessive compulsive disorder and Gilles de la Tourette's syndrome.

This article reviews the evidence that obsessive compulsive disorder (OCD) and Gilles de la Tourette's syndrome (GTS) are both familial and genetic. Studies are summarized that suggest that (1) some forms of OCD are related to GTS, (2) some forms of OCD are familial and may not be related to GTS, and (3) the patterns of inheritance of GTS and OCD within the same families are consistent with the transmission of an autosomal dominant genetic locus.

Inguinal herniorrhaphy in the continuous ambulatory peritoneal dialysis patient.

Inguinal hernia repair in the patient on continuous ambulatory peritoneal dialysis (CAPD) is complicated in theory by an increased potential for recurrence. In addition to the constant increased intraabdominal pressure, chronic renal failure has been shown to impair tissue healing. Controversy exists regarding the waiting period before resuming CAPD postoperatively.

An epidemiological study of obsessive-compulsive disorder and related disorders in Israeli adolescents.

Five hundred and sixty-two, 16- to 17-year-old consecutive inductees into the Israeli Army, constituting a random sample of their cohort, were screened for obsessive-compulsive disorder (OCD), Tourette's syndrome, transient tics (TT), chronic multiple tics (CMT), and attention-deficit hyperactive disorder (ADHD). Two child psychiatrists interviewed the subjects, using screening items from structured interviews that implement DSM-III-R diagnostic criteria. For OCD, a point prevalence of 3.

Update on the search for DNA markers linked to manic-depressive illness in the Old Order Amish.

In this report we describe our efforts to identify a gene involved in bipolar illness using a large, multigenerational Old Order Amish pedigree with many affected individuals. The original collection of cell lines from Amish pedigree 110 has been extended to include 169 individuals. We have used over 250 markers spaced at approximately 20 centiMorgans that detect restriction length fragment polymorphisms, but no LOD scores greater than 3 have been obtained from pairwise linkage analyses.

Risks of affective illness among first-degree relatives of bipolar I old-order Amish probands.

Data from bipolar I old-order Amish families suggest that the morbid risk of illness is not significantly different in this population when compared with estimates of risk from previous studies. The age-corrected rates of bipolar I, bipolar II, and major depressive disorder among first-degree relatives are 8.7, 3.

Correlation of carotid artery stump pressure with a palpable carotid artery pulse.

The carotid artery stump pressure has been used as a criterion for selective placement of a shunt during carotid endarterectomy. The purpose of our study was to correlate the carotid stump pressure with the presence or absence of a palpable pulse in the carotid stump. One hundred twenty-two consecutive patients undergoing carotid endarterectomy under general anesthesia were checked for a palpable pulse in the internal carotid stump with subsequent measurements of the stump pressure.

Linkage of bipolar affective disorders to markers on chromosome 11p is excluded in a second lateral extension of Amish pedigree 110.

Linkage between markers on chromosome 11p and bipolar affective disorders can be excluded in a second large lateral extension of the original Amish Pedigree 110. These results, together with previous negative linkage findings, suggest that there is not one single gene on 11p conferring susceptibility for bipolar affective disorders among the Old Order Amish.

Evidence for major gene transmission of developmental dyslexia.

Objective: --There is strong evidence that developmental dyslexia is both familial and heritable, but the mode of genetic transmission has remained unclear. In this article, we examine specific genetic hypotheses about the mode of transmission of developmental dyslexia by performing complex segregation analyses.

Design: --A family study method was applied, whereby the relatives of dyslexic probands were examined for dyslexia.

Progress in the search for genetic linkage with Tourette syndrome: an exclusion map covering more than 50% of the autosomal genome.

Gilles de la Tourette syndrome is a neuropsychiatric disorder with an autosomal dominant mode of inheritance and reduced penetrance at a single genetic locus. Several research groups have genetic linkage studies underway to detect the chromosomal location of the gene that predisposes for this disorder. Strong and clear evidence of linkage has not yet been produced for Tourette syndrome.

Genetic factors in the expression of attention-deficit hyperactivity disorder.

ABSTRACT Although the definition of attention-deficit hyperactivity disorder has changed to some degree over time, there is evidence that genetic factors are important for the concurrent expression of inattention, impulsivity, and hyperactivity. The evidence regarding the hypothesis that genetic factors are important for the expression of this syndrome, and of elements of this syndrome, is reviewed. While genetic factors appear to be important, the specific genetic mode of transmission is not known.

A family study of Gilles de la Tourette syndrome.

Previous studies have demonstrated that Gilles de la Tourette syndrome (TS) is a familial disorder and that chronic tics (CT) and obsessive compulsive disorder (OCD) appear to be etiologically related to the syndrome. In the present study we report the results from a study of 338 biological relatives of 86 TS probands, 21 biologically unrelated relatives of adopted TS probands, and 22 relatives of normal subjects. The 43 first-degree relatives of the adopted TS and normal probands constituted a control sample.

Psychiatric disorders in relatives of probands with opiate addiction.

Previous research has documented high rates of major depression and antisocial personality in opiate addicts. This study was designed to investigate the relationship of dual diagnosis in opiate-addicted probands to family history of psychiatric disorders and substance use disorders in biological relatives. Psychiatric disorders and substance use disorders were evaluated using direct interview and family history in a sample of 877 first-degree relatives of 201 opiate addicts and 360 relatives of 82 normal controls.