Huntington'sDisease

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Huntington's Disease 

• Damon Jason
• Jakub Jedrkowiak

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Introduction

• Huntingtons Disease (HD) is a progressive
  degenerative condition
• Genetic defect
• George Huntington-1872
• Causes brain nerve cells to waste away
• Victim shows symptoms later in life

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Early Symptoms of HD

• slight, uncontrollable muscular movements
• stumbling and clumsiness
• lack of concentration
• short-term memory lapses
• depression
• changes of mood, sometimes including aggressive
  or antisocial behavior

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How HD Progresses

• Change in ones physical state
• Involuntary movements
• Slurred speech
• Weight loss
• Change in ones emotional state
• Mood swings
• Depression
• Easily frustrated

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Genetics of HD

• Autosomal dominant condition
• For an affected parent, 50 chance of
  transmission with each pregnancy
• DNA sequence is CAG
• Can be caused by genetic mutation

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Incidence of HD

• Only one in 10,000
• 30,000 known cases in the U.S
• 16 of all cases Juvenile HD
• 150,000 people (US) who are at risk
• Death 10-20 years after initial symptoms
• The suicide rate is 12.7
• No known adaptive benefits

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Cures?

• Currently there is no known cure
• Pharmaceutical drugs have been used to control
  the symptoms.
• High calorie diet
• Two potential cures
• Inhibiting protein expression of mutant allele
• Striatal transplantation

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References

• Collins, Debra. Genetics of Huntingtons
  Disease. Updated 15 Feb 1999. Retrieved April
  2005 lthttp//www.kumc.edu/hospital/huntingtons/gen
  etics.htmlgt.
• The Huntingtons Disease Association. Updated
  Apr. 2005. Retrieved Apr. 2005.
  lthttp//www.hda.org.uk/charity/whatishd.htmlgt.
• Hosey, Alison. Huntingtons Disease
  Pathogenesis and Treatment. Trinity Student
  Medical Journal. Updated 2003. Retrieved Apr.
  2005 ltwww.tcd.ie/tsmj/ 2003/huntingt.htm gt
• Huntington's Disease Hope Through Research.
  National Institute of Neurological Disorders and
  Stroke. Updated 9 Feb 2005. Retrieved Apr. 2005
  lthttp//www.ninds.nih.gov/disorders/huntington/det
  ail_huntington.htmgt.
• Huntingtons Disease. Neurology Channel.
  Updated May 2004. Retrieved Apr. 2005
  lthttp//www.neurologychannel.com/huntingtons/gt.