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Beyond the brain: widespread pathology in Huntington's disease.

van der Burg, Jorien Mm; Björkqvist, Maria LU and Brundin, Patrik LU (2009) In Lancet Neurology 8(8). p.765-774
Abstract
Huntington's disease (HD) is an inherited neurodegenerative disorder caused by a polyglutamine stretch in the huntingtin protein. Today, more than 15 years after the genetic defect underlying HD was discovered, the pathogenesis is still not well understood and there is no adequate treatment. Research into this disorder has conventionally focused on neurological symptoms and brain pathology, particularly neurodegeneration in the basal ganglia and cerebral cortex. Mutant huntingtin is, however, ubiquitously expressed throughout the body. Indeed, contrary to earlier thinking, HD is associated with abnormalities in peripheral tissues. These abnormal changes are not all secondary to brain dysfunction, but most seem to be directly caused by... (More)
Huntington's disease (HD) is an inherited neurodegenerative disorder caused by a polyglutamine stretch in the huntingtin protein. Today, more than 15 years after the genetic defect underlying HD was discovered, the pathogenesis is still not well understood and there is no adequate treatment. Research into this disorder has conventionally focused on neurological symptoms and brain pathology, particularly neurodegeneration in the basal ganglia and cerebral cortex. Mutant huntingtin is, however, ubiquitously expressed throughout the body. Indeed, contrary to earlier thinking, HD is associated with abnormalities in peripheral tissues. These abnormal changes are not all secondary to brain dysfunction, but most seem to be directly caused by expression of mutant huntingtin in peripheral tissues. In this article, we highlight this emerging field of research and how it might affect our understanding of the pathogenesis of this disease, the development of novel biomarkers of disease progression, and the identification of new potential treatments. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Lancet Neurology
volume
8
issue
8
pages
765 - 774
publisher
Lancet Ltd
external identifiers
  • wos:000268555800018
  • pmid:19608102
  • scopus:67650095269
ISSN
1474-4465
DOI
10.1016/S1474-4422(09)70178-4
language
English
LU publication?
yes
id
9c716b68-a016-426b-a7e6-7d7b89dc27ac (old id 1453039)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/19608102?dopt=Abstract
date added to LUP
2009-08-04 13:11:28
date last changed
2017-11-12 04:07:46
@article{9c716b68-a016-426b-a7e6-7d7b89dc27ac,
  abstract     = {Huntington's disease (HD) is an inherited neurodegenerative disorder caused by a polyglutamine stretch in the huntingtin protein. Today, more than 15 years after the genetic defect underlying HD was discovered, the pathogenesis is still not well understood and there is no adequate treatment. Research into this disorder has conventionally focused on neurological symptoms and brain pathology, particularly neurodegeneration in the basal ganglia and cerebral cortex. Mutant huntingtin is, however, ubiquitously expressed throughout the body. Indeed, contrary to earlier thinking, HD is associated with abnormalities in peripheral tissues. These abnormal changes are not all secondary to brain dysfunction, but most seem to be directly caused by expression of mutant huntingtin in peripheral tissues. In this article, we highlight this emerging field of research and how it might affect our understanding of the pathogenesis of this disease, the development of novel biomarkers of disease progression, and the identification of new potential treatments.},
  author       = {van der Burg, Jorien Mm and Björkqvist, Maria and Brundin, Patrik},
  issn         = {1474-4465},
  language     = {eng},
  number       = {8},
  pages        = {765--774},
  publisher    = {Lancet Ltd},
  series       = {Lancet Neurology},
  title        = {Beyond the brain: widespread pathology in Huntington's disease.},
  url          = {http://dx.doi.org/10.1016/S1474-4422(09)70178-4},
  volume       = {8},
  year         = {2009},
}