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Huntington
Huntington's disease: is a rare and progressive genetic disease that affects the brain. It is caused by a mutation in the huntingtin gene, which produces an abnormal protein that accumulates in the nerve cells of the brain. This build-up of protein gradually damages the nerve cells, leading to motor, cognitive and psychiatric problems. Symptoms can include involuntary movements, unsteady gait, difficulty speaking and swallowing, mood and cognitive problems, and a progressive deterioration in the ability to think, remember and reason. There is currently no cure for Huntington's disease, but symptomatic treatments can help improve the quality of life for those affected.
Biomarkers that have been studied in Huntington's disease include:
1. Protein levels: Studies have shown that levels of certain proteins, such as mutant huntingtin, tumor necrosis factor-alpha (TNF-alpha), beta-amyloid protein, and tau protein, are altered in Huntington's disease patients.
2. Neurotransmitter levels: Levels of dopamine, glutamate and other neurotransmitters are affected in Huntington's disease, which can be used as a potential biomarker.
3. Brain Imaging: Brain imaging can reveal changes in brain structure and function in patients with Huntington's disease. Imaging techniques include positron emission tomography (PET), magnetic resonance imaging (MRI), and magnetic resonance spectroscopy (MRS).
4. Cognitive testing: Cognitive tests can help identify changes in cognitive function in patients with Huntington's disease.