Case study: Huntington's disease
Huntington’s disease (HD) is a disorder that someone is born with yet they often don’t experience symptoms until well into adulthood. It occurs when an individual has a mutated form of a single gene out of the 20-25,000 that humans have. Consequently, the individual’s cells produce an unusual form of a protein. This protein is normally important for function in various tissues throughout the body including the brain.
Within the brain it appears to be important for the normal functioning of neurones in particular parts of the brain which, therefore, leads to that person exhibiting some or all of a characteristic set of symptoms.
• What are the classical symptoms of HD?
• What does this tell us about the brain regions most involved?
• How does the abnormal protein affect the neurones?
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