Characteristics, pathophysiology and clinical management of weight loss in Huntington's disease. (June 2013)

• Record Type: Journal Article
• Authors: Aziz, N Ahmad; Roos, Raymund AC
• Is Part Of: Neurodegenerative disease management. Volume 3:Number 3(2013)
• Page Start: 253
• Page End: 266
• Publication Date: 2013-06
• Subjects: Nervous system -- Degeneration -- Periodicals; 616.8
• DOI: 10.2217/nmt.13.22
• Languages: English
• ISSNs: 1758-2024

Abstract

SUMMARY Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG repeat expansion in the HTT gene. Clinically, the disease is characterized by motor impairment, cognitive deterioration and behavioral disturbances. Unintended weight loss is also a hallmark of the disease and frequently leads to general weakening and a decline in the quality of life of HD patients. Moreover, a higher BMI has been associated with a slower rate of disease progression. In this review, the authors first delineate the characteristics of weight loss in both HD patients and genetic models of the disease. Subsequently, they discuss the pathophysiological processes underlying weight loss in HD and highlight the implications for management and care of HD patients with, or at risk of, unintended weight loss.