Huntington's disease is a multi-system disorder

Abstract

Huntington's disease (HD) is one of the most common non-curable rare diseases and is characterized by choreic movements, psychiatric symptoms, and slowly progressive dementia. HD is inherited as an autosomal dominant disorder with complete penetrance. Although brain pathology has become a hallmark of HD, there is a critical mass of new studies suggesting peripheral tissue pathology as an important factor in disease progression. In particular, recently published studies about skeletal muscle malfunction and HD-related cardiomyopathy in HD mouse models strongly suggest their important roles, leading to upcoming preclinical and clinical trials. One might conclude that therapeutic approaches in HD should not be restricted only to the brain pathology but instead major efforts should also be made to understand the cross-talk between diseased tissues like the CNS-Heart or CNS-skeletal muscle axes.

Keywords:

• cardiomyopathy
• Huntington's disease
• neurodegeneration
• peripheral tissue pathology
• skeletal muscle atrophy
• triplet repeat disorder

Disclosure of Potential Conflicts of Interest

No potential conflicts of interest were disclosed.

Acknowledgments

I am grateful to Dr. Mark Isalan for comments that greatly improved the manuscript.

Funding

This work was supported by funding from the European Research Council grant H2020 - ERC-2014-PoC 641232 - Fingers4Cure.