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Progress in Huntington's disease : the search for markers of disease onset and progression

Mason, Sarah and Barker, Roger A LU (2015) In Journal of Neurology 262(8). p.5-1990
Abstract

Unlike most neurodegenerative disorders, individuals at risk from Huntington's disease can be identified prior to the onset of clinical signs of the disease by virtue of it being an autosomal dominant condition. This provides the hypothetical opportunity to delay disease onset and/or slow down the progression of the disease in the very early stages ahead of overt features of disease. To help prepare for therapeutic trials of disease-modifying compounds, extensive work has gone into (1) finding ways of better predicting the onset of disease in pre-manifest HD gene carriers (PMGC), (2) defining the extent of non-motor features of HD and (3) identifying robust and reliable tests by which to measure disease progression. In this short... (More)

Unlike most neurodegenerative disorders, individuals at risk from Huntington's disease can be identified prior to the onset of clinical signs of the disease by virtue of it being an autosomal dominant condition. This provides the hypothetical opportunity to delay disease onset and/or slow down the progression of the disease in the very early stages ahead of overt features of disease. To help prepare for therapeutic trials of disease-modifying compounds, extensive work has gone into (1) finding ways of better predicting the onset of disease in pre-manifest HD gene carriers (PMGC), (2) defining the extent of non-motor features of HD and (3) identifying robust and reliable tests by which to measure disease progression. In this short review, we summarise some of the major findings in this area of clinical research.

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Please use this url to cite or link to this publication:
author
publishing date
type
Contribution to journal
publication status
published
keywords
Biomarkers, Disease Progression, Humans, Huntington Disease, Journal Article, Research Support, Non-U.S. Gov't, Review
in
Journal of Neurology
volume
262
issue
8
pages
6 pages
publisher
Steinkopff
external identifiers
  • scopus:84939265716
ISSN
1432-1459
DOI
10.1007/s00415-015-7700-0
language
English
LU publication?
no
id
3359322a-c8bb-4c2e-ace4-42f41f2848bb
date added to LUP
2016-11-24 14:54:14
date last changed
2017-01-08 06:02:28
@article{3359322a-c8bb-4c2e-ace4-42f41f2848bb,
  abstract     = {<p>Unlike most neurodegenerative disorders, individuals at risk from Huntington's disease can be identified prior to the onset of clinical signs of the disease by virtue of it being an autosomal dominant condition. This provides the hypothetical opportunity to delay disease onset and/or slow down the progression of the disease in the very early stages ahead of overt features of disease. To help prepare for therapeutic trials of disease-modifying compounds, extensive work has gone into (1) finding ways of better predicting the onset of disease in pre-manifest HD gene carriers (PMGC), (2) defining the extent of non-motor features of HD and (3) identifying robust and reliable tests by which to measure disease progression. In this short review, we summarise some of the major findings in this area of clinical research.</p>},
  author       = {Mason, Sarah and Barker, Roger A},
  issn         = {1432-1459},
  keyword      = {Biomarkers,Disease Progression,Humans,Huntington Disease,Journal Article,Research Support, Non-U.S. Gov't,Review},
  language     = {eng},
  number       = {8},
  pages        = {5--1990},
  publisher    = {Steinkopff},
  series       = {Journal of Neurology},
  title        = {Progress in Huntington's disease : the search for markers of disease onset and progression},
  url          = {http://dx.doi.org/10.1007/s00415-015-7700-0},
  volume       = {262},
  year         = {2015},
}