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. 2015 Jul 24;3(1):e1058464.
doi: 10.1080/21675511.2015.1058464. eCollection 2015.

Huntington's disease is a multi-system disorder

Michal Mielcarek  1
Affiliations

Huntington's disease is a multi-system disorder

Michal Mielcarek. Rare Dis. .

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: Huntington's disease; cardiomyopathy; neurodegeneration; peripheral tissue pathology; skeletal muscle atrophy; triplet repeat disorder.

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Figures

Figure 1.
Figure 1.
A summary of HD-striated muscle pathology in preclinical settings. CNS (Central Nervous System); SNS (Sympathetic Nervous System).
See this image and copyright information in PMC

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