Huntington’s Disease : Understanding Its Impacts and Treatments

Huntington’s disease is a severe neurodegenerative disorder, characterized by its autosomal dominant inheritance pattern. This condition leads to progressive brain degeneration starting in adulthood, resulting in rapid deterioration and eventual death.

The Genetic Basis and Symptoms of Huntington’s Disease

The disorder is notably classified as the most prevalent among trinucleotide repeat neurodegenerative diseases. It involves an expansion of the CAG sequence repeats in specific genes, which correlates with an increase in consecutive glutamine residues in the expressed proteins. This genetic alteration significantly impacts when symptoms will appear—the greater the number of repeats, the earlier the onset.

Explore the causes, symptoms, and treatment options for Huntington’s Disease, a severe neurodegenerative disorder impacting brain function.

Key Symptoms and Neurological Impact

Symptoms of Huntington’s disease manifest as severe motor symptoms, including involuntary writhing movements (choreiform movements) which are highly disabling, and cognitive decline leading to dementia. The disease primarily affects the cortex and the striatum in the brain, leading to significant neuronal loss. This loss is partly due to interactions of the mutant Huntingtin protein, which is prone to misfolding and aggregation, with various regulatory proteins including caspases that promote cell death (apoptosis) and excitotoxicity.

Treatment Approaches

Currently, treatment for Huntington’s disease focuses on managing symptoms rather than curing the disease. Dopamine antagonists have been effective in reducing involuntary movements, unlike Levodopa and Bromocriptine, which can worsen these symptoms. Additionally, GABA agonists like baclofen help alleviate motor symptoms but do not influence the progression of dementia or the overall course of the disease. Experimental treatments, including neural transplantation and drugs targeting excitotoxicity, are still under investigation.

The Contrast with Parkinson’s Disease

Interestingly, the neurological effects of Huntington’s disease and the medications used for its treatment present a contrasting picture to those of Parkinson’s disease. For instance, drugs that positively affect dopamine transmission in Parkinson’s have the opposite effect in Huntington’s, highlighting the complex interplay of neurotransmitters in different neurodegenerative disorders.