Relationship of birth weight to the phenotypic expression of Gilles de la Tourette's syndrome in monozygotic twins

Hyde, Thomas M.; Aaronson, B. A.; Randolph, Christopher; Rickler, Kenneth C.; Weinberger, Daniel R.

doi:10.1212/wnl.42.3.652

Cited by 202 publications

(91 citation statements)

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“…Familial studies have repeatedly demonstrated significant increases in the incidence of TS or other tic disorders in first degree relatives of affected individuals (McMahon et al, 2003). Studies in twins also support a genetic disorder with a concordance of chronic tics in 77-94% of monozygotic compared to just 23% in dizygotic twins (Price et al, 1985;Hyde et al, 1992). Despite these reports, the precise pattern of transmission and the specific genes involved remain elusive.…”

Section: Etiologymentioning

confidence: 99%

Neurobiology of Tourette Syndrome: Current Status and Need for Further Investigation: Table 1.

Felling¹,

Singer²

2011

J. Neurosci.

201

116

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Tourette syndrome (TS) is a common, chronic neuropsychiatric disorder characterized by the presence of fluctuating motor and phonic tics. The typical age of onset is ϳ5-7 years, and the majority of children improve by their late teens or early adulthood. Affected individuals are at increased risk for the development of various comorbid conditions, such as obsessive-compulsive disorder, attention deficit hyperactivity disorder, school problems, depression, and anxiety. There is no cure for tics, and symptomatic therapy includes behavioral and pharmacological approaches. Evidence supports TS being an inherited disorder; however, the precise genetic abnormality remains unknown. Pathologic involvement of cortico-striatal-thalamo-cortical (CSTC) pathways is supported by neurophysiological, brain imaging, and postmortem studies, but results are often confounded by small numbers, age differences, severity of symptoms, comorbidity, use of pharmacotherapy, and other factors. The primary site of abnormality remains controversial. Although numerous neurotransmitters participate in the transmission of messages through CSTC circuits, a dopaminergic dysfunction is considered a leading candidate. Several animal models have been used to study behaviors similar to tics as well as to pursue potential pathophysiological deficits. TS is a complex disorder with features overlapping a variety of scientific fields. Despite description of this syndrome in the late 19th century, there remain numerous unanswered neurobiological questions.In the 1880's, Georges Gilles de la Tourette published a two-part article in which he emphasized differences between tics and chorea. Although many of the descriptions about the disorder, which now bears his name [Tourette syndrome (TS)], have been revised, his belief that tics are a neurological movement disorder and not a psychiatric condition persists to the present (Goetz and Klawans, 1982). Nevertheless, despite multiple advances and widespread acceptance of TS being a biological disorder, the precise etiology and underlying pathophysiological mechanisms remain unknown. The goals of the present review are to briefly describe the clinical phenomenology of TS and related tic disorders, to review current information on genetic and neurobiological mechanisms, and to identify areas in need of further investigation.

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Section: Etiologymentioning

confidence: 99%

Neurobiology of Tourette Syndrome: Current Status and Need for Further Investigation: Table 1.

Felling¹,

Singer²

2011

J. Neurosci.

201

116

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“…Nonetheless, there is general agreement that first-degree relatives of GTS probands have a 10-to 100-fold greater risk of developing the disorder than do individuals in the general population (4). Monozygotic concordance rates have been found to be between 53% and 56%, versus a concordance of Ͻ10% in dizygotic twins (5,6). When twin studies have used direct patient examination and included the diagnosis of chronic tics (CT), monozygotic concordance has been noted to be as high as 100% (7).…”

Section: G Illes De La Tourette Syndrome (Gts) [Online Mendelianmentioning

confidence: 99%

Epigenetic abnormalities associated with a chromosome 18(q21-q22) inversion and a Gilles de la Tourette syndrome phenotype

State

Greally²,

Cuker

et al. 2003

Proc. Natl. Acad. Sci. U.S.A.

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Gilles de la Tourette syndrome (GTS) is a potentially debilitating neuropsychiatric disorder defined by the presence of both vocal and motor tics. Despite evidence that this and a related phenotypic spectrum, including chronic tics (CT) and Obsessive Compulsive Disorder (OCD), are genetically mediated, no gene involved in disease etiology has been identified. Chromosomal abnormalities have long been proposed to play a causative role in isolated cases of GTS spectrum phenomena, but confirmation of this hypothesis has yet to be forthcoming. We describe an i(18q21.1-q22.2) inversion in a patient with CT and OCD. We have fine mapped the telomeric aspect of the rearrangement to within 1 Mb of a previously reported 18q22 breakpoint that cosegregated in a family with GTS and related phenotypes. A comprehensive characterization of this genomic interval led to the identification of two transcripts, neither of which was found to be structurally disrupted. Analysis of the epigenetic characteristics of the region demonstrated a significant increase in replication asynchrony in the patient compared to controls, with the inverted chromosome showing delayed replication timing across at least a 500-kb interval. These findings are consistent with long-range functional dysregulation of one or more genes in the region. Our data support a link between chromosomal aberrations and epigenetic mechanisms in GTS and suggest that the study of the functional consequences of balanced chromosomal rearrangements is warranted in patients with phenotypes of interest, irrespective of the findings regarding structurally disrupted transcripts.

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“…Fakat Tourette bozukluğu belirtilerinin klinik ağırlığının genetik bir bağlantısının olmadığı, belirtilerin derecesinin doğum sonrası ve doğum öncesi çeşitli faktörlerle ilişkili olduğu belirlenmiştir. [8] Bu alanda dizigot ikizlerle yapılan çok daha az sayıda çalışma bulunmaktadır. Tourette bozukluğunun dizigotik ikizlerdeki eş hastalanma oranı %8 olarak saptanmış-tır.…”

Section: Tanımıunclassified

Pharmacological Treatment of Tourette Disorder

Taner¹,

Güney²,

Taner³

2013

Psikiyatride Guncel Yaklasimlar - Current Approaches in Psychia

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ÖZETTourette bozukluğu motor ve vokal tiklerle karakterize kronik bir nöropsikiyatrik bozukluktur. Hastalığın seyrinde belirtilerde zaman zaman düzelmeler ve alevlenmeler görülebilmekte ve belirtiler hastaların yaşam kalitesini azaltmaktadır. Hastalar belirtilerinin tedavisi için uzun süre ilaç tedavisi almak zorunda kalmakta ve bunun yanı sıra pek çok ilaç yan etkisi ile karşı-laşmaktadırlar. Tourette bozukluğu belirtilerinin farmakoterapi ile kontrolü kimi olgularda klinisyenleri ciddi bir şekilde zorlamaktadır. Tourette bozukluğu tedavisinde en sık alfa 2 reseptör agonistleri ve antipsikotik ilaçlar kullanılmaktadır. Tourette bozukluğu tedavisinde en sık kullanılan yeni nesil antipsikotikler risperidon ve aripiprazoldür. Bunun yanı sıra çelişkili sonuçları olan dopamin agonistleri, tetrabenazin, topiramat, levatirasetam ve delta-9-tetrahidrokannabinol ile yapılan yeni çalışmalar da mevcuttur. Anahtar Sözcükler: Tourette Bozukluğu, tikler, antipsikotik ilaçlar. ABSTRACTTourette disorder is a chronic neuropsychiatric disorder characterized by vocal and motor tics. The course of the disorder shows waxing and vaning pattern and symptoms adversely affect patients' quality of life. Patients use psychopharmacologic agents for long periods to control their symptoms during which they also struggle with drug related side effects. Clinicians face serious difficulties in controlling symptoms with psychopharmacological agents. Primarily alpha 2 receptor agonists and antipsychotic drugs have been used in the treatment of Tourette disorder. Risperidone and aripiprazole are the most commonly used new generation antipsychotics in the treatment. In addition there are contradictory findings regarding the use of dopamine agonists, tetrabenazine, topiramate, levatirasetame, and delta-9-tetrahydrocannabinol in these patients

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Relationship of birth weight to the phenotypic expression of Gilles de la Tourette's syndrome in monozygotic twins

Cited by 202 publications

References 0 publications

Neurobiology of Tourette Syndrome: Current Status and Need for Further Investigation: Table 1.

Neurobiology of Tourette Syndrome: Current Status and Need for Further Investigation: Table 1.

Epigenetic abnormalities associated with a chromosome 18(q21-q22) inversion and a Gilles de la Tourette syndrome phenotype

Pharmacological Treatment of Tourette Disorder

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