Huntington's Disease (RE-UPLOAD) | Pathogenesis, Signs/Symptoms, and Detailed Mechanism

The video provides an in-depth look at Huntington's disease, starting with its pathophysiology and the role of the Huntington protein. It explains how genetic variations in the number of CAG repeats can affect the onset and severity of the disease. The video details how misfolded proteins lead to neuron degeneration, particularly in the basal nuclei, causing symptoms like chorea. It reviews the direct and indirect pathways of the basal nuclei and how Huntington's disease disrupts these pathways, leading to increased movement and muscle contraction.

What is the primary cause of Huntington's disease?

How does the number of CAG repeats in the Huntington gene affect the risk of developing Huntington's disease?

Describe the difference between full penetrance and reduced penetrance in the context of Huntington's disease.

Explain how mutant Huntington protein leads to neuronal cell death.

What are the initial signs and symptoms of Huntington's disease?

Discuss the impact of Huntington's disease on cognitive and psychological functions.

What is chorea, and how is it related to Huntington's disease?

How does Huntington's disease affect the basal nuclei pathways?

What role do medium spiny neurons play in Huntington's disease?

What are the long-term effects of Huntington's disease on motor functions?