Huntington’s disease (HD) is a fully penetrant neurodegenerative disease caused by a dominantly inherited CAG trinucleotide repeat expansion in the huntingtin (HTT) gene on chromosome 4. Mutant huntingtin (mHTT) results in neuronal dysfunction and death through a number of mechanisms.
HD causes inevitable decline in motor, cognitive, and psychiatric functions over two decades, and no current therapy alters the disease course. The toxic gain-of-function of mutant huntingtin begins decades before clinical onset, suggesting a long pre symptomatic window for intervention.
Traditionally classified as a neuropsychiatric disease, recent research into the molec ular mechanisms underlying HD suggests it is better described as a systemic illness, as autonomic symptoms often precede motor deficits by several years. HD manifests in peripheral tissues, including skeletal muscle and liver, leading to metabolic dysfunctions. Studies have reported mitochondrial impairments in both symptomatic HD patients and asymptomatic mutation carriers, indicating that mitochondrial dysfunction is an early feature of the disease.
Despite its devastating impact, HD remains under-recognized. Here’s why:
- Rarity
- Stigma and secrecy
- Delayed symptoms
- Lack of visible advocacy
- Testing dilemma
What do you know about the current treatment strategies that are adopted in clinical practice for the treatment of Huntington’s disease?
MBH/AB