Treatment options in Huntington's disease

Abstract

Introduction: Huntington's disease (HD) is a progressive neurodegenerative disorder caused by an expanded CAG repeat expansion located in the huntingtin gene. It is characterized by motor, cognitive, and psychiatric disturbances that hinder quality of life and lead to death two decades after onset. As in many low-prevalence diseases, no statement can be made regarding best symptomatic, restorative, or protective medical treatment in terms of evidence-based medicine. Most recommendations are, therefore, based on expert opinion and standard clinical practice.

Areas covered: This review covers papers published on the treatment of HD in public databases as well as clinical trials performed in this disease. Symptomatic, neuroprotective, and neurorestorative treatments are discussed as well as genetic interventions. Recent advances in our understanding of the molecular biology of the HD gene and the availability of detectable biomarkers years before disease onset, coupled with the existence of worldwide study groups, form a promising scenario for the development of disease-modifying interventions and symptomatic treatments.

Expert opinion: There is no evidence for effective neuroprotective or neurorestorative therapy in HD but some symptomatic treatment may provide at least partial relief of symptoms and genetic intervention could prevent disease transmission.

Keywords::

• genetic intervention
• Huntington's disease
• neuroprotective treatment
• neurorestorative treatment
• preimplantation diagnosis
• symptomatic treatment

Notes

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