Tourette’s Syndrome
Common names
Tourette Syndrome
Tourette’s
TS
Information about genetics

•
•
•
•
•

Tourette’s is an inherited neurological disorder that causes verbal
and motor tics....
More about genes

•

•
•

TS is neither a dominant nor recessive disorder.
o A carrier has an ~50% chance of passing genes...
Symptoms/Effects
Tics- Sudden brief, irregular movements or sounds. Range from mild to
severe
Premonitory urge-An uncomfor...
Symptoms/Effects continued

•
•
•

•

Severe symptoms may greatly affect a person with
Tourette’s by interfering with comm...
Diagnosis
•
•
•
•

•
•

There are no blood, laboratory, or imaging tests available to diagnose
Tourette’s.
Both motor and ...
Prognosis

•
•

•
•

There is no cure for Tourette’s, but the condition often
improves in the late teens or early 20’s.
It...
Treatment
● Medications
○ may be taken to minimize the impairment caused by
Tourette’s

● Behavioral treatments
○ Awarenes...
•

Current Research
Recent studies suggest that many slight genetic variations
add up to cause the symptoms that define To...
Genetic Counseling
Currently, genetic counseling isn’t very useful
because little is known about the specific genes
involv...
Sources
Davis, L.K. et al (2013) Partitioning the heritability of Tourette Syndrome and Obsessive Compulsive
Disorder reve...
Tourette syndrome
Tourette syndrome
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Tourette syndrome

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Tourette syndrome

  1. 1. Tourette’s Syndrome
  2. 2. Common names Tourette Syndrome Tourette’s TS
  3. 3. Information about genetics • • • • • Tourette’s is an inherited neurological disorder that causes verbal and motor tics. It is estimated that ~0.3% to 0.8% of the world’s population has Tourette’s. As with many other neurological disorders, males have Tourette’s more frequently than females. It is suggested that this is because females have a larger basal ganglia. Twin studies show that although Tourette’s is an inherited disorder, there is a lot of variability in its expression based on environmental factors Studies suggest that mutations in many different genes combine to cause Tourette’s Syndrome. This makes it a genetically complex
  4. 4. More about genes • • • TS is neither a dominant nor recessive disorder. o A carrier has an ~50% chance of passing genes associated with TS to his/her children, but TS symptoms are not always expressed. It may show up as a milder tic disorder, or as Obsessive Compulsive Disorder or Attention Deficit Disorder with or without the association of tics. Pedigree analysis is not applicable to TS because the disorder is passed through many different genes on different chromosomes.
  5. 5. Symptoms/Effects Tics- Sudden brief, irregular movements or sounds. Range from mild to severe Premonitory urge-An uncomfortable bodily sensation (itch, tingle or tension) that is relieved by expressing a tic. Simple Tics Sudden, brief, and repetitive. Involve few muscle groups. Motor Tics -Eye blinking -Head jerking -Shoulder shrugging -Finger flexing Vocal Tics -Yelling -Throat Clearing -Sniffing/snorting -Barking -Grunting sounds Complex Tics Distinct, coordinated patterns of movements. Involve many muscle groups. Motor Tics -Smelling or touching objects -Flapping the arms -Hopping -Touching the nose Vocal Tics -Using different tones of voice -Coprolalia -Echolalia -Palallia
  6. 6. Symptoms/Effects continued • • • • Severe symptoms may greatly affect a person with Tourette’s by interfering with communication, quality of life, and daily functioning. Tics are often worse with anxiety or excitement, and better during calm and focused activities. With extreme effort, some people can temporarily hold their tics back until they find a less disruptive location to express them, but this often causes tension to the point where they feel like the tics must be expressed (against their will). Tourette’s is often linked with ADD and OCD
  7. 7. Diagnosis • • • • • • There are no blood, laboratory, or imaging tests available to diagnose Tourette’s. Both motor and vocal tics must be present, but not necessarily at the same time. Tics occur at least several times a day nearly every day or intermittently for at least a year. Tics cannot be caused by medications, other substances, or another medical condition. Often, patients receive a formal diagnosis long after their tics are present. Many people with Tourette’s are self diagnosed after they, their parents, other relatives or friends hear about Tourette’s from others.
  8. 8. Prognosis • • • • There is no cure for Tourette’s, but the condition often improves in the late teens or early 20’s. It is a lifelong and chronic condition, but is not degenerative. o People with Tourette’s have a normal life expectancy Tourette’s Syndrome does not impair intelligence. Neurobehavioral disorders that are associated with tourette’s such as ADD, ADHD, OCD, depression, generalized anxiety, panic attacks, and mood swings can persist in adult life even though the severity of tics may lessen.
  9. 9. Treatment ● Medications ○ may be taken to minimize the impairment caused by Tourette’s ● Behavioral treatments ○ Awareness training and competing response training can be used to reduce tics. ● Supportive therapy ○ Although this hasn’t been shown to reduce tics, can help a person with Tourette’s better cope with the disorder and the social and emotional problems that may occur because of it.
  10. 10. • Current Research Recent studies suggest that many slight genetic variations add up to cause the symptoms that define Tourette Syndrome. o Variations that may be associated with Tourette’s are found on chromosomes 2, 3, 5, 7, 9, 11, 12, 16, and 20. o Genes that may be associated with Tourette’s include COL8A1 (chrom. 3) and, COL27A (chrom. 9) which encode for collagens-proteins found in bone and in the brain; POLR3B (chrom. 12) which encodes RNA Polymerase III; as well as NRXN1 (chrom. 2) which encodes the protein neurexin 1 that mediates cell interaction within the brain.
  11. 11. Genetic Counseling Currently, genetic counseling isn’t very useful because little is known about the specific genes involved in TS. As more information is gathered about TS genetics, genetic counseling will improve.
  12. 12. Sources Davis, L.K. et al (2013) Partitioning the heritability of Tourette Syndrome and Obsessive Compulsive Disorder reveals differences in genetic architecture. PLoS Genet 9(10): e1003864. doi:10.1371/journal.pgen.1003864. Matthews, C (2009) Tourette Syndrome Genetics Q&A. Inside TSA, Winter 2009. http://www.tsausa.org/aMedical/medical_genetics.htm, accessed December 2, 2013. Mayo Clinic (2012) Tourette Syndrome. http://www.mayoclinic.com/health/tourette-syndrome/DS00541, accessed November 30, 2013. Nag, A. et al (2013) CNV analysis in Tourette Syndrome implicates large genomic rearrangements in COL8A1 and NRXN1. PLoS ONE 8(3): e59061. doi:10.1371/journal.pone.0059061 National Institute of Neurological Disorders and Stroke (2012). Tourette Syndrome Fact Sheet. http://www.ninds.nih.gov/disorders/tourette/detail_tourette.htm#220463231, accessed November 30, 2013. Scharf, J.M. et al (2013) Genome-wide association study of Tourette Syndrome. Mol Psychiatry. 2013 June ; 18(6): 721–728. doi:10.1038/mp.2012.69.

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