Huntington Symptoms

1
Huntington Symptoms

• Chorea (movement disorder) and twitching
• Personality changes, depression, and emotional
  outbursts
• Memory loss and dementia

2

• Age at Onset of HD (usually 30-45) but may be as
  young as 5 or as old as 70

3

• What causes Huntington's disease?
• Huntington's disease is caused by a faulty gene
  on chromosome 4. The gene, which produces a
  protein called Huntingtin, was discovered in 1993.

4
Huntingtons Disease

• On short arm of Chromosome 4, CAG repeats
• normal 11-29 times disease 40-80 times

THIS LAND IS YOUR LAND words and music by Woody
Guthrie This land is your land, this land is
my land From California, to the New York Island
From the redwood forest, to the gulf stream
waters This land was made for you and me As I
was walking a ribbon of highway I saw above me
an endless skyway I saw below me a golden valley
This land was made for you and me
Woody Guthrie
5
Cause of HD at the molecular level

• http//www.ygyh.org/hd/cause.htm

6

• The Huntingtin protein is found throughout the
  body, not just the brain.
• The abnormal gene produces an abnormal Huntingtin
  protein
• This protein interacts with other proteins to
  form poisonous products that are toxic to brain
  cells.

7
How is it inherited?

• HD is passed on as an autosomal dominant trait.

8
Inheritance of HD

• http//www.ygyh.org/hd/inherited.htm

9
HD Destroys the relay neurons of the basal ganglia
10
Chromosome CAG repeat cause of Huntington Disease
11
Diagnosis of HD

• http//www.ygyh.org/hd/diagnosis.htm

12
Treatment of HD

• http//www.ygyh.org/hd/treated01.htm

13
Informed consent

• a legal condition whereby a person can be said to
  have given consent based upon a clear
  appreciation and understanding of the facts,
  implications and future consequences of an
  action.
• the minimum age for HD test informed consent is
  usually age 16-21 depending on the government
  entity of institution.
• Link to an HD Informed consent form