Neurodegenerative Diseases: Parkinson’s and Huntington’s Key Concepts
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28 Terms
What was the iron lung used for?
To treat respiratory paralysis (especially from polio) using negative pressure
What is commonly used today instead of the iron lung?
Mechanical ventilators that use positive pressure
What is Huntington's disease?
A rare inherited disorder caused by a mutation in the HTT gene
At what age do Huntington's symptoms typically appear?
Around age 40
What is chorea?
Involuntary, brief, jerky movements
What is akinesia?
Difficulty initiating movement (freezing)
What is bradykinesia?
Slowness of movement
What is rigidity (hypertonia)?
Increased muscle stiffness/tone
What cognitive symptom occurs in Huntington's disease?
Dementia (decline in memory and mental ability)
What historical event may have involved undiagnosed Huntington's disease?
The Salem witch trials (speculated)
When was the Huntington's gene identified?
1983 (on chromosome 4)
When did genetic testing for Huntington's begin?
1993
What genes are linked to increased breast cancer risk?
BRCA1 and BRCA2
What is Parkinson's disease?
A movement disorder caused by loss of dopamine-producing cells
Who first described Parkinson's disease?
James Parkinson (1817)
What age group is most commonly affected by Parkinson's?
50-65 years old
What is early-onset Parkinson's?
Parkinson's diagnosed between ages 21-50
What are the four main symptoms of Parkinson's?
Tremor, rigidity, akinesia/bradykinesia, postural instability
What causes Parkinson's symptoms?
Loss of dopamine-producing cells in the substantia nigra
What does idiopathic mean?
The cause is unknown
What is dopamine?
A neurotransmitter that regulates movement and neural activity
Why do Parkinson's symptoms occur when dopamine is low?
Neurons become hyperactive
Why can't dopamine be used directly as treatment?
It cannot cross the blood-brain barrier
What is apomorphine?
A dopamine agonist that mimics dopamine and crosses the blood-brain barrier
What is L-Dopa?
A precursor to dopamine that can enter the brain and be converted into dopamine
What is a common side effect of L-Dopa?
Dyskinesia (involuntary movements)
What is deep brain stimulation (DBS)?
A surgical treatment that reduces overactive brain signals
What brain areas are targeted in DBS?
Globus pallidus or subthalamic nucleus