Familial Pattern of Gilles de la Tourette Syndrome

Kídd, Kenneth K.

doi:10.1001/archpsyc.1980.01780250022001

Cited by 110 publications

(42 citation statements)

References 12 publications

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“…3,4 Moreover, the present study has demonstrated a tendency for discordant co-twins to have milder forms of tics. The synchrony of onset in partially concordant pairs, although subject to bias, is also consistent with a common etiology of TS and milder tics.…”

Section: Correlated Behaviorssupporting

confidence: 55%

A Twin Study of Tourette Syndrome

Price¹

1985

Arch Gen Psychiatry

308

121

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Section: Correlated Behaviorssupporting

confidence: 55%

A Twin Study of Tourette Syndrome

Price¹

1985

Arch Gen Psychiatry

308

121

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“…The genetic basis of TS was originally postulated by several groups in the late 1970’s, based on clinical observations on the high familiality of the syndrome [41, 42]. These findings spurred a great number of analyses on genetic variants in TS.…”

Section: Etiology Of Ts: Genetic Environmental and Sex Factorsmentioning

confidence: 99%

The Implication of Neuroactive Steroids in Tourette's Syndrome Pathogenesis: A Role for 5α‐Reductase?

Bortolato

Frau

Godar

et al. 2013

J Neuroendocrinology

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Tourette syndrome (TS) is a neurodevelopmental disorder characterized by recurring motor and phonic tics. The pathogenesis of TS is thought to reflect dysregulations in the signaling of dopamine (DA) and other neurotransmitters, which lead to excitation/inhibition imbalances in cortico-striato-thalamocortical circuits. The causes of these deficits may reflect complex gene × environment × sex (G×E×S) interactions; indeed, the disorder is markedly predominant in males, with a male-to-female prevalence ratio of ~4:1. Converging lines of evidence point to neuroactive steroids as likely molecular candidates to account for GxExS interactions in TS. Building on these premises, our group has begun examining the possibility that alterations in the steroid biosynthetic process may be directly implicated in TS pathophysiology; in particular, our research has focused on 5α-reductase (5αR), the enzyme catalyzing the key rate-limiting step in the synthesis of pregnane and androstane neurosteroids. In clinical and preclinical studies, we found that 5αR inhibitors exerted marked anti-DAergic and tic-suppressing properties, suggesting a central role for this enzyme in TS pathogenesis. Based on these data, we hypothesize that enhancements in 5αR activity in early developmental stages may lead to an inappropriate activation of the “backdoor” pathway for androgen synthesis from adrenarche until the end of puberty. We predict that the ensuing imbalances in steroid homeostasis may impair the signaling of DA and other neurotransmitters, ultimately resulting in the facilitation of tics and other behavioral abnormalities in TS.

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“…Historically, it was often reported that TS showed familial aggregation and it was even more striking if chronic tics were considered a minor manifestation of the syndrome. Early genetic analyses of family history data were consistent with the hypothesis that TS and chronic twins were vertically transmitted within families [27,28] and demonstrated that simple genetic models could explain the transmission patterns [29][30][31][32][33].…”

Section: Family Studiesmentioning

confidence: 87%

The genetics of tourette syndrome

Pauls

2001

Curr Psychiatry Rep

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Twin and family studies demonstrate that Tourette syndrome (TS) is a genetic disorder. Early segregation analyses of family data were consistent with the hypothesis of autosomal dominant transmission; however, more recent studies suggest that the mode of inheritance is more complex. Current findings suggest that there are genes of major effect with other genes acting as modifiers. Several genome scans have been completed and several regions of interest have been identified that may harbor susceptibility genes for TS. Work is currently underway to replicate and extend these initial results.

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Familial Pattern of Gilles de la Tourette Syndrome

Cited by 110 publications

References 12 publications

A Twin Study of Tourette Syndrome

A Twin Study of Tourette Syndrome

The Implication of Neuroactive Steroids in Tourette's Syndrome Pathogenesis: A Role for 5α‐Reductase?

The genetics of tourette syndrome

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