English: What is Huntington disease? Huntington disease is a type of autosomal dominant disorder involving a triplet repeat of CAG, leading to an abnormal protein that results in neuronal cell death, and various movement and cognitive-related symptoms. This video covers the pathophysiology, as well as major clinical signs and symptoms of Huntington disease.
Sources:
First Aid
Pathoma
Principles and Practice of Medical Genetics. Ch 117. Basal ganglia disorders.
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