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HD Center of Excellence
Huntington’s Disease
gPrevalence: 7 per 100,000 gAge of Onset: 2 - 82 y.; mean = 39;
10% onset < 20 y.; 25% onset > 50 y.
gDuration of Illness: 3 - 50 y.; mean =
Huntingtons Disease An Overview HD Center of Excellence - - PDF document
Huntingtons Disease An Overview HD Center of Excellence - - PDF document
Huntingtons Disease An Overview HD Center of Excellence Huntingtons Disease g Prevalence: 7 per 100,000 g Age of Onset: 2 - 82 y.; mean = 39; 10% onset < 20 y.; 25% onset > 50 y. g Duration of Illness: 3 - 50 y.; mean = 18 HD
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HD Center of Excellence
Genetically Inherited Disease
g Autosomal dominant genetic disorder g Each child has a 50% chance of
inheriting the genetic mutation for the disease
g Males and females have an equal chance
- f inheriting the disease
g Inherited equally across nationalities
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HD Center of Excellence
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HD Center of Excellence
Direct Gene Results
g Normal CAG repeat length g Intermediate CAG repeat
length
g CAG repeat length in HD
range
g Maternal Transmission g Of 25 samples typed; all were
within 2 CAG repeat lengths
- f parent
g < 30 g gray zone under investigation g > 39 g Paternal Transmission g Of 37 samples typed; 19
expanded from 3 to 50 CAG repeat lengths
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HD Center of Excellence
10 20 30 40 50 60 70 80 90 10 20 30 40 50 60 70 80 90 100 110 120 130
CAG Repeat Size Age at Onset (years)
Age at onset by CAG repeat size
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HD Center of Excellence
The Decision to Test...
g WFN, IHA, HDSA Guidelines for the
Ethical Conduct of Genetic Testing
g Impact on employment and insurance g Impact on psychosocial: less well
adjusted were positive, married, no children, and closer to age of onset
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HD Center of Excellence
Clinical Triad of Symptoms in HD
Psych.
M otor
Cognitive
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HD Center of Excellence
What Do We Know About Behavior and the Brain?
g Our behavior is directly affected by changes in
the brain
g Day-to-day effects on brain: fatigue and stress g Chronic effects on brain: disease g Compensatory aspects of the brain g We see behavior changes before diagnosis
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HD Center of Excellence
Behavior and the Brain
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HD Center of Excellence
Circuits in the Brain
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HD Center of Excellence
Filtering, organizing, prioritizing
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HD Center of Excellence
Planning & Organization
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HD Center of Excellence
“Gates” in the Brain
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HD Center of Excellence
What Happens When Gates Fall Out of Repair?
g Poor control of
temper
g Poor control of
recall
g Dysregulation of
emotion and thinking
g Confusion
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HD Center of Excellence
g By the time of diagnosis:
Many patients (or family members) have noticed
difficulty in thinking skills, reasoning, and emotional changes such as anger or depression
g Therefore: to be most effective, many new
treatments under study aim to prevent symptom onset.
g Detailed discussion at afternoon session.