Huntington's disease at work

Abstract

Huntington’s Disease (HD) is a progressive, autosomal dominant neurodegenerative disorder caused by an expanded CAG repeat in the Huntingtin gene, leading to neuronal loss in the striatum and cortex. Clinically, HD manifests as a triad of motor, cognitive, and psychiatric symptoms that progressively impair daily functioning. While motor signs such as chorea are characteristic, cognitive decline (especially in executive function) and psychiatric symptoms often appear years earlier. The disease typically begins between ages 30–50 and progresses over 15–20 years, with no curative treatment currently available.

This thesis, Huntington’s Disease at Work, explores how HD affects functioning and employment, and how clinical, psychological, and occupational factors interact over time. It investigates the natural course of functional decline using the Total Functional Capacity (TFC) scale, identifies predictors of job loss, and examines differences between professional demands and disease characteristics. Furthermore, it studies the roles of coping mechanisms and anosognosia in maintaining employment and evaluates psychological interventions tailored to HD care in the Netherlands. Together, these studies illuminate how HD impacts working life long before overt disability, emphasizing the need for early psychological and occupational support to preserve autonomy, resilience, and quality of life in individuals carrying the HD gene.