What is Huntington’s Disease?

Huntington’s disease is a progressive neurodegenerative condition that leads to dysfunction and eventual death of brain cells, termed atrophy, triggered by an inherited mutation in the huntingtin (HTT) gene. This gene, crucial for brain development in both fetal stages and throughout life, undergoes mutations causing distinct motor and cognitive disturbances, usually noticeable in individuals aged 30 to 35. However, there are rare instances, around 5% – 10% of cases globally, where a more aggressive form known as Juvenile Huntington’s disease surfaces, even as early as 18 years old.  

Those inheriting the mutated HTT gene may exhibit symptoms like agitation, irritability, and clumsiness arising from changes in the brain’s cortex (its outer layer) and basal nuclei. These parts of the brain are pivotal components of our brain’s feedback mechanism governing motor and emotional responses. Mutations in the HTT gene lead to abnormal levels of huntingtin’s protein, resulting in brain cell toxicity and disrupted functioning. This disruption may manifest as excessive movements alongside emotional and cognitive disturbances, shaping the spectrum of behaviours observed in Huntington’s disease.