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A complete genome screen in sib pairs affected by Gilles de la Tourette syndrome. The Tourette Syndrome Association International Consortium for Genetics.

ABSTRACT: Gilles de la Tourette syndrome is a neuropsychiatric disorder characterized by waxing and waning multiple motor and phonic tics with a complex mode of inheritance. Previous attempts, which used large multigenerational families to localize susceptibility loci, have been unsuccessful. In this report, the results of the first systematic genome scan, using 76 affected-sib-pair families with a total of 110 sib pairs, are summarized. While no results reached acceptable statistical significance, the multipoint maximum-likelihood scores (MLS) for two regions (4q and 8p) were suggestive (MLS > 2.0). Four additional genomic regions also gave multipoint MLS scores between 1.0 and 2.0.

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PROVIDER: S-EPMC1288313 | biostudies-literature | 1999 Nov

REPOSITORIES: biostudies-literature

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A complete genome screen in sib pairs affected by Gilles de la Tourette syndrome. The Tourette Syndrome Association International Consortium for Genetics.

American journal of human genetics 19991101 5

Gilles de la Tourette syndrome is a neuropsychiatric disorder characterized by waxing and waning multiple motor and phonic tics with a complex mode of inheritance. Previous attempts, which used large multigenerational families to localize susceptibility loci, have been unsuccessful. In this report, the results of the first systematic genome scan, using 76 affected-sib-pair families with a total of 110 sib pairs, are summarized. While no results reached acceptable statistical significance, the mu ...[more]

PMID: 10521310

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Genomewide scan of hoarding in sib pairs in which both sibs have Gilles de la Tourette syndrome.

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Blocking Tics in Gilles de la Tourette Syndrome.

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Cerebrospinal fluid endocannabinoid levels in Gilles de la Tourette syndrome.

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Project description:Heat has been reported to exert variable effects on people with Gilles de la Tourette syndrome (TS). At age 24 years, a 32-year-old right-handed man with TS experienced a marked reduction in tics for two years after undergoing dehydration by entering a hot tub at 103°F (39.4°C) to 104°F (40.0°C) for 3 to 4 hours. On the Yale Global Tic Severity Scale (YGTSS) he scored 55 seven months before dehydration and 13 one month after dehydration. An intense heat exposure and dehydration led to an apparent remission in tics. The remission continued without the use of prescribed or nonprescribed medications or substances for two years until tics returned in the worst ever exacerbation after a tetanus immunization. The heat exposure may have altered at least temporarily his thermostat for normal heat-loss mechanisms through dopaminergic pathways from the anterior hypothalamus to the basal ganglia and the substantia nigra. Whether or not that mechanism or some other mechanism relevant to the heat exposure and/or dehydration is at play, the sudden and marked improvement in his tics needs further attention. Prospective testing of the heat and dehydration effect on tics should be pursued.

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Gilles de la Tourette Syndrome: advice in the times of COVID-19.

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