Huntington's Disease
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Introduction
The Case of...
a simple case introducing clincial presentation and calling for a differential diagnosis. To get students thinking.
Causes and Risk Factors
Pathophysiology
- CAG expansion disorder (>44) in the huntingtin gene (Ch 4); the bigger, the worse
- thought to result from glutamate cytotoxicity, acting on NMDA channels and resulting in increased calcium influx
- loss of GABAergic neurons in the basal ganglia striatum
- increased activity in the globus pallidus externa, leading to increased inhibition of globus pallidus interna and thereby increased activity in the thalamus and subsequent cortex
Signs and Symptoms
- chorea
- behavioural-psychiatric disturbances
- cognitive impairment
- memory retrieval (frontal subcortical)
- death
- history
- physical exam
History
Physical Exam
Investigations
- lab investigations
- diagnostic imaging
Lab Investigations
Diagnostic Imaging
Differential Diagnosis
Treatments
Consequences and Course
The Case of...
Case #2 - a small story wrapping it all up and asking about esp management.
Additional Resources
Topic Development
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