Huntington's disease is a multi-system disorder.
File(s)
Published version
Author(s)
Mielcarek, M
Type
Journal Article
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.
Date Acceptance
2015-05-29
Citation
Rare Diseases
ISSN
2167-5511
Publisher
Taylor & Francis
Journal / Book Title
Rare Diseases
Volume
3
Issue
1
Copyright Statement
© Michal Mielcarek. This is an Open Access article distributed under the
terms of the Creative Commons Attribution-NonCommercial
License (http://creativecommons.org/
licenses/by-nc/3.0/), which permits unrestricted
non-commercial use, distribution, and reproduction
in any medium, provided the original work is properly
cited. The moral rights of the named author(s)
have been asserted.
terms of the Creative Commons Attribution-NonCommercial
License (http://creativecommons.org/
licenses/by-nc/3.0/), which permits unrestricted
non-commercial use, distribution, and reproduction
in any medium, provided the original work is properly
cited. The moral rights of the named author(s)
have been asserted.
Article Number
e1058464