Huntington’s disease (HD) is a genetic disorder that affects the nervous system, causing progressive degeneration of neurons in the brain. It is caused by a mutation in the huntingtin gene, which leads to the accumulation of a toxic protein called mutant huntingtin.
The pathologies of Huntington’s disease are characterized by several key features, including:
- Movement disorders: HD is associated with a range of movement disorders, including chorea (involuntary movements), dystonia (abnormal muscle contractions), and bradykinesia (slowness of movement). These movement disorders typically develop gradually over time and become more severe as the disease progresses.
- Cognitive and psychiatric symptoms: HD can also cause cognitive and psychiatric symptoms, including memory loss, difficulty with planning and organization, personality changes, depression, and anxiety. These symptoms can be particularly challenging for patients and their families.
- Striatal atrophy: The striatum is a key region of the brain that is involved in movement and reward processing. In HD, the striatum undergoes progressive atrophy, leading to the characteristic movement disorders associated with the disease.
- Cortical atrophy: In addition to striatal atrophy, HD also causes progressive atrophy of the cerebral cortex, which is involved in cognitive and emotional processing. This cortical atrophy is thought to underlie the cognitive and psychiatric symptoms of the disease.
- Neuroinflammation: HD is associated with increased levels of inflammation in the brain, which may contribute to the degeneration of neurons and the progression of the disease.
- Abnormal protein aggregation: Mutant huntingtin protein aggregates, or clumps together, within neurons, leading to cellular dysfunction and death.
Overall, the pathologies of Huntington’s disease are complex and multifaceted, involving multiple regions of the brain and a range of cellular and molecular processes. There is currently no cure for HD, but there are treatments that can help manage symptoms and improve quality of life for patients.
