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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1453039
- author
- van der Burg, Jorien Mm
; Björkqvist, Maria
LU
and Brundin, Patrik
LU
- organization
- publishing date
- 2009
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Lancet Neurology
- volume
- 8
- issue
- 8
- pages
- 765 - 774
- publisher
- Lancet Publishing Group
- external identifiers
-
- wos:000268555800018
- pmid:19608102
- scopus:67650095269
- ISSN
- 1474-4465
- DOI
- 10.1016/S1474-4422(09)70178-4
- language
- English
- LU publication?
- yes
- additional info
- The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Neuronal Survival (013212041), Translational Neuroendocrinology (013210010)
- 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
- 2016-04-04 08:18:41
- date last changed
- 2023-09-19 15:05:19
@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 Publishing Group}},
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}},
doi = {{10.1016/S1474-4422(09)70178-4}},
volume = {{8}},
year = {{2009}},
}