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Huntington’s Disease Presented by Filomena DiVecchia
What  is  Huntington’s Disease? <ul><li>AKA:  Huntington disease  or  Huntington’s chorea . </li></ul><ul><li>A medical pr...
Huntington’s Disease <ul><li>Statistically speaking: </li></ul><ul><ul><li>If one parent has a dominant gene defect: </li>...
Symptoms of Huntington’s Disease <ul><li>Psychological symptoms: </li></ul><ul><ul><li>Depression </li></ul></ul><ul><ul><...
The Effects of Huntington’s Disease <ul><li>It can affect males and females, as well as any and all races and ethnic group...
The Effects of Huntington’s Disease Continued… <ul><li>Gradual, extensive brain damage is also associated in: </li></ul><u...
 
HD: The Bigger Picture <ul><li>Huntington’s disease affects approximately 1/10,000 individuals in the United States. </li>...
Huntington’s Disease: Discoveries… <ul><li>In the 1980s, researchers discovered that Huntington’s disease occurs on chromo...
Huntington’s Disease: Discoveries… <ul><li>The identification of the gene for Huntington’s disease lead to the discovery o...
HD: Is Genetic Testing the Way to GO??/The End...? <ul><li>Presymptomatic testing  is an exam that predicts whether or not...
References <ul><ul><li>Drouet, V., Perrin, V., Hassig, R., Dufour, N., Auregan, </li></ul></ul><ul><li>G., Alves, S., Bonv...
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Huntington's Disease Presented by Filomena DiVecchia

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Huntington's Disease Presented by Filomena DiVecchia

  1. 1. Huntington’s Disease Presented by Filomena DiVecchia
  2. 2. What is Huntington’s Disease? <ul><li>AKA: Huntington disease or Huntington’s chorea . </li></ul><ul><li>A medical practitioner from Ohio, George Huntington , gave the first detailed description of what HD consisted of. </li></ul><ul><li>Considered an inherited disorder </li></ul><ul><ul><li>1% - 3% of individuals with HD have no family history. </li></ul></ul><ul><li>Autosomal dominant disorder </li></ul><ul><ul><li>Disease caused by a dominant mutant gene on an autosome (non sex chromosome). </li></ul></ul><ul><li>Severe neurological disorder </li></ul><ul><ul><li>Neuro degenerative condition </li></ul></ul><ul><ul><ul><li>Causing certain brain cells to deteriorate. </li></ul></ul></ul>
  3. 3. Huntington’s Disease <ul><li>Statistically speaking: </li></ul><ul><ul><li>If one parent has a dominant gene defect: </li></ul></ul><ul><ul><ul><li>each one of his/her children has a 50% chance of inheriting the disorder. </li></ul></ul></ul><ul><ul><ul><li>four children, two are likely to inherit the abnormal gene, while two are unlikely to have it at all, (i.e. no developing it, no passing it down). </li></ul></ul></ul>
  4. 4. Symptoms of Huntington’s Disease <ul><li>Psychological symptoms: </li></ul><ul><ul><li>Depression </li></ul></ul><ul><ul><li>Memory impairment </li></ul></ul><ul><ul><li>Delusions (often) </li></ul></ul><ul><ul><li>Hallucinations (rarely) </li></ul></ul><ul><ul><li>Sexual disorders </li></ul></ul><ul><ul><ul><li>Promiscuous vs. Uninterested </li></ul></ul></ul><ul><ul><li>Mimics schizophrenia </li></ul></ul><ul><li>Motor symptoms: </li></ul><ul><ul><li>Jerky arms </li></ul></ul><ul><ul><li>Facial twitches </li></ul></ul><ul><ul><li>Continuous tremors that develop into writhing (twisting around). </li></ul></ul><ul><ul><ul><li>Chorea , same root word as choreography. </li></ul></ul></ul>
  5. 5. The Effects of Huntington’s Disease <ul><li>It can affect males and females, as well as any and all races and ethnic groups. </li></ul><ul><li>The constant tremors, twitches & writhing increasingly interfere with an individual’s: </li></ul><ul><ul><li>Walking </li></ul></ul><ul><ul><li>Speech </li></ul></ul><ul><ul><li>Other voluntary movements </li></ul></ul><ul><ul><ul><li>Standing up/sitting down </li></ul></ul></ul><ul><ul><ul><li>Reading/writing </li></ul></ul></ul><ul><li>An individual’s capability to learn/improve new movements, is especially limited. </li></ul>
  6. 6. The Effects of Huntington’s Disease Continued… <ul><li>Gradual, extensive brain damage is also associated in: </li></ul><ul><ul><li>Basal ganglia set of subcortical forebrain structures lateral to the hypothalamus that include: </li></ul></ul><ul><ul><ul><li>Caudate nucleus </li></ul></ul></ul><ul><ul><ul><li>Putamen </li></ul></ul></ul><ul><ul><ul><li>Globus pallidus </li></ul></ul></ul><ul><ul><li>Cerebral cortex </li></ul></ul>
  7. 8. HD: The Bigger Picture <ul><li>Huntington’s disease affects approximately 1/10,000 individuals in the United States. </li></ul><ul><ul><li>More than 250,000 Americans are either at risk or have Huntington’s disease. </li></ul></ul><ul><li>Once the symptoms begin, and are full blown, they become gradually worse. </li></ul><ul><ul><li>Progresses over 10 – 25 years </li></ul></ul><ul><ul><li>Leads to death </li></ul></ul><ul><li>The onset is generally between the ages of 30 -50. </li></ul><ul><li>Average age is 38. </li></ul><ul><ul><li>Can occur during early childhood or in old age. </li></ul></ul><ul><ul><li>The earlier the onset, the more rapid the deterioration. </li></ul></ul>
  8. 9. Huntington’s Disease: Discoveries… <ul><li>In the 1980s, researchers discovered that Huntington’s disease occurs on chromosome #4. </li></ul><ul><li>In 1993, researchers identified the gene itself. </li></ul><ul><li>Sequence of bases C-A-G (cytosine, adenine, guanine) found on critical area of gene: </li></ul><ul><ul><li>Repeated between 11 – 24 times, producing a string of 11 – 24 glutamines in the resulting protein. </li></ul></ul><ul><ul><li>Repetition up to 35 C-A-G is considered safe from HD. </li></ul></ul><ul><ul><li>Repetition of 39 C-A-G or more is considered likely to get the disease, unless death from something else occurs first. </li></ul></ul><ul><ul><ul><li>The more repetitions, the earlier the onset of HD. </li></ul></ul></ul>
  9. 10. Huntington’s Disease: Discoveries… <ul><li>The identification of the gene for Huntington’s disease lead to the discovery of a protein that it codes: </li></ul><ul><ul><li>Known as Huntingtin </li></ul></ul><ul><ul><ul><li>Occurs throughout the human body. </li></ul></ul></ul><ul><ul><ul><li>Produces no harm outside the brain , but is harmful inside the neurons (but not in their membranes). </li></ul></ul></ul><ul><li>The discovery of the Huntingtin protein gave researchers a basis to begin developing drugs that could help with HD. </li></ul><ul><ul><li>Animal studies have been a key part in this; however, some drugs have only shown improvement on animals, sometimes only specific ones, but not humans. </li></ul></ul>
  10. 11. HD: Is Genetic Testing the Way to GO??/The End...? <ul><li>Presymptomatic testing is an exam that predicts whether or not an individual will develop a disease, before any symptoms have appeared. </li></ul><ul><ul><li>Examination of chromosomes is almost perfect. </li></ul></ul><ul><li>Some individuals decide to do this if his/her parent has [recently] been diagnosed with the disease. </li></ul><ul><ul><li>Knowing helps to make future plans: </li></ul></ul><ul><ul><ul><li>whether or not to have children. </li></ul></ul></ul><ul><ul><ul><li>if higher education is worth it. </li></ul></ul></ul><ul><li>Not everyone at risk decides to take the test. </li></ul><ul><ul><li>Fear! </li></ul></ul><ul><ul><ul><li>There is no treatment … but there are possibilities ! </li></ul></ul></ul>
  11. 12. References <ul><ul><li>Drouet, V., Perrin, V., Hassig, R., Dufour, N., Auregan, </li></ul></ul><ul><li>G., Alves, S., Bonvento, G., Brouillet, E., Luthi </li></ul><ul><li>Carter, R., Hantraye, P., & Deglón, N. </li></ul><ul><li>(2005).Sustained effects of nonallele-specific </li></ul><ul><li>Huntingtin silencing. Annals of Neurology . 65 , </li></ul><ul><li>276-285. </li></ul><ul><ul><li>Kalat, J. W. (2007). Biological Psychology . Canada: </li></ul></ul><ul><li>Wadsworth/Thompson Learning. </li></ul><ul><ul><li>R.J. Ferrante, Mouse models of Huntington's disease </li></ul></ul><ul><li>and methodological considerations for </li></ul><ul><li>therapeutic trials, Biochim. Biophys. Acta (2009), </li></ul><ul><li>doi:10.1016/j.bbadis.2009.04.001. </li></ul><ul><ul><li>Unknown Author. (2009, January 05). NINDS </li></ul></ul><ul><li>Huntington's Disease Information Page. </li></ul><ul><li>Retrieved May 11, 2009, from National Institute </li></ul><ul><li>of Neurological Disorders & Stroke Web site: </li></ul><ul><li>http://www.ninds.nih.gov/disorders/huntington/hu </li></ul><ul><li>ntington.htm. </li></ul>

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