Tourette Syndrome
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What is Tourette syndrome?Tourette syndrome is a complex disorder characterized by repetitive, sudden, and involuntary movements or noises called tics. Tics usually appear in childhood, and their severity varies over time. In most cases, tics become milder and less frequent in late adolescence and adulthood. Tourette syndrome involves both motor tics, which are uncontrolled body movements, and vocal or phonic tics, which are outbursts of sound. Some motor tics are simple and involve only one muscle group. Simple motor tics, such as rapid eye blinking, shoulder shrugging, or nose twitching, are usually the first signs of Tourette syndrome. Motor tics also can be complex (involving multiple muscle groups), such as jumping, kicking, hopping, or spinning. Vocal tics, which generally appear later than motor tics, also can be simple or complex. Simple vocal tics include grunting, sniffing, and throat-clearing. More complex vocalizations include repeating the words of others (echolalia) or repeating one's own words (palilalia). The involuntary use of inappropriate or obscene language (coprolalia) is possible, but uncommon, among people with Tourette syndrome. In addition to frequent tics, people with Tourette syndrome are at risk for associated problems including attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, depression, and problems with sleep. How common is Tourette syndrome?Tourette syndrome is a relatively common disorder. Although its exact incidence is uncertain, it is estimated to affect 1 to 10 in 1,000 children. This disorder occurs in populations and ethnic groups worldwide, and is more common in males than in females. What genes are related to Tourette syndrome?The SLITRK1 gene is associated with Tourette syndrome. A variety of genetic and environmental factors likely play a role in causing Tourette syndrome. Most of these factors are unknown, and researchers are studying risk factors before and after birth that may contribute to this complex disorder. They believe that tics may result from changes in brain chemicals (neurotransmitters) that are responsible for producing and controlling voluntary movements. Mutations involving the SLITRK1 gene have been identified in a small number of people with Tourette syndrome. This gene provides instructions for making a protein that is active in the brain. The SLITRK1 protein probably plays a role in the development of nerve cells, including the growth of specialized extensions (axons and dendrites) that allow the cell to communicate with nearby nerve cells. It is unclear how mutations in the SLITRK1 gene can lead to this disorder. Because SLITRK1 mutations have been reported in so few people with Tourette syndrome, studies need to be repeated to confirm the gene's association with this condition. Researchers suspect that other genes, which have not been identified, are also associated with Tourette syndrome. How do people inherit Tourette syndrome?The inheritance pattern of Tourette syndrome is unclear because many genetic and environmental factors are likely to be involved. Among family members of an affected person, it is difficult to predict who else may be at risk of developing the condition.
Source: National Institutes of Health
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Researchers from Royal Hospital, Department of Neurology describe findings in Tourette syndrome genetics
2007 AUG 13 -- Scientists discuss in "An individual with Gilles de la Tourette syndrome and Smith-Magenis microdeletion syndrome: is chromosome 17p11.2 a candidate region for Tourette syndrome putative susceptibility genes" new findings in Tourette syndrome. According to recent research from Muscat, Oman, "This is the first published case description in the current literature of the association of definite Gilles de la Tourette syndrome (GTS) and the Smith-Magenis syndrome (SMS), both confirmed by DSM-IV-TR criteria and molecular cytogenetic analysis, respectively. The co-occurrence of GTS, SMS and their common behavioural/neuropsychiatric abnormalities should warrant further genetic investigation of chromosome 17p11.2 deletion site as it may be a promising region for containing a gene(s) of aetiological importance in the development of the GTS phenotype." "Alternatively, the co-occurrence may be due to the common endophenotypic mechanisms shared by these disorders, rather than being specific for GTS that could be explored using strategies of quantitative trait loci -endophenotype-based approach. Research into this genomic region may also benefit psychiatric genetic research in enhancing understanding of the biological and molecular underpinnings of common behavioural problems that are seen in both GTS and SMS," wrote B.P. Shelley and colleagues, Royal Hospital, Department of Neurology. The researchers concluded: "This would lead to advancement in neurobehavioural/neuropsychiatric genetics which will help in further explaining the broader perspective of gene-brain-behaviour interrelationships." Shelley and colleagues published their study in the Journal of Intellectual Disability Research (An individual with Gilles de la Tourette syndrome and Smith-Magenis microdeletion syndrome: is chromosome 17p11.2 a candidate region for Tourette syndrome putative susceptibility genes? Journal of Intellectual Disability Research, 2007;51(Pt 8):620-4). For additional information, contact B.P. Shelley, The Royal Hospital, Dept. of Neurology, Ministry of Health, Muscat, Oman. Publisher contact information for the Journal of Intellectual Disability Research is: Blackwell Publishing Ltd., 9600 Garsington Rd., Oxford OX4 2DG, Oxon, England. Keywords: Oman, Muscat, Tourette Syndrome Genetics, Central Nervous System Disease, Genetics, Tourette Syndrome, Tourette's Syndrome. This article was prepared by Pain & Central Nervous System Week editors from staff and other reports. Copyright 2007, Pain & Central Nervous System Week via NewsRx.com.
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