Department of Experimental Medical Science, Translational Neuroendocrine Research Unit, Lund University, Lund, Sweden.
European Neurological Review 5: 49–53 (2010)
Huntington’s disease (HD) is a hereditary neurodegenerative disorder that leads to premature death. There is no satisfactory treatment or
cure. The disease is caused by an expanded CAG repeat in the huntingtin gene. The clinical features are characterised by progressive
motor symptoms, including chorea, which currently defines the clinical diagnosis of the disease. The motor aspect of HD is thought to be
due to dysfunction and cell loss in the striatum of the basal ganglia. Cognitive impairment and psychiatric disturbances occur early and
are major components of the disease. Recent studies have shown that other non-motor symptoms and signs, such as disruption of the
circadian rhythm, sleep disturbances, autonomic dysfunction and metabolic changes, are also common and occur early. Several of these
non-motor features are likely results of dysfunction of the hypothalamus and neuroendocrine circuits, which are known to be central in
the regulation of emotion, sleep and metabolism. Increasing numbers of reports are now redefining HD as a disease with pathology
spreading beyond the basal ganglia. This article provides an overview of current knowledge based on recent clinical studies demonstrating
that hypothalamic and neuroendocrine changes are important features of HD.