“The unmet need in Huntington’s disease will become even more apparent as disease-modifying drugs emerge.”
Huntington’s disease (HD) is a progressive, autosomal dominant neurodegenerative disorder caused by an expanded Cytosine, Adenine, Guanine repeat sequence in the Huntingtin (HTT) gene. HD triggers the progressive breakdown of neurons within the basal ganglia and cerebral cortex. This structural decay manifests clinically as a devastating triad of motor symptoms, psychiatric disturbances, and cognitive decline. The hallmark motor symptom is chorea, defined as involuntary, irregular movements that can significantly impair quality of life and functional independence. As the disease progresses, patients may also develop dystonia, rigidity, and bradykinesia. Depression, anxiety, agitation, and aggression are common, but apathy, perseverations, hallucinations, and delusions may appear as well. Cognitive decline may also manifest as memory loss, poor judgment, and impaired concentration, making HD a complex multisymptomatic disorder. Despite decades of research, no curative therapies exist for movement disorders in psychiatry and neurology.
