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Huntington's disease: a synaptopathy?

Li, Jia-Yi LU ; Plomann, Markus and Brundin, Patrik LU (2003) In Trends in Molecular Medicine 9(10). p.414-420
Abstract
Huntington's disease (HD) is caused by a polyglutamine expansion in the protein huntingtin. In its terminal stage, HD is characterized by widespread neuronal death in the neocortex and the striatum. Classically, this neuronal death has been thought to underlie most of the symptoms of the disease. Accumulating evidence suggests, however, that cellular dysfunction is important in the pathogenesis of HD. We propose that specific impairment of the exocytosis and endocytosis machinery contributes to the development of HD. We also suggest that abnormal synaptic transmission underlies the early symptoms of HD and can contribute to the triggering of cell death in later stages of the disease.
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Trends in Molecular Medicine
volume
9
issue
10
pages
414 - 420
publisher
Elsevier
external identifiers
  • pmid:14557053
  • wos:000186206800005
  • scopus:0142184100
ISSN
1471-4914
DOI
10.1016/j.molmed.2003.08.006
language
English
LU publication?
yes
id
61855709-2d6f-4ecf-9ade-78d58cc5cf80 (old id 118286)
alternative location
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14557053&dopt=Abstract
date added to LUP
2007-07-16 15:03:50
date last changed
2018-06-24 04:39:19
@article{61855709-2d6f-4ecf-9ade-78d58cc5cf80,
  abstract     = {Huntington's disease (HD) is caused by a polyglutamine expansion in the protein huntingtin. In its terminal stage, HD is characterized by widespread neuronal death in the neocortex and the striatum. Classically, this neuronal death has been thought to underlie most of the symptoms of the disease. Accumulating evidence suggests, however, that cellular dysfunction is important in the pathogenesis of HD. We propose that specific impairment of the exocytosis and endocytosis machinery contributes to the development of HD. We also suggest that abnormal synaptic transmission underlies the early symptoms of HD and can contribute to the triggering of cell death in later stages of the disease.},
  author       = {Li, Jia-Yi and Plomann, Markus and Brundin, Patrik},
  issn         = {1471-4914},
  language     = {eng},
  number       = {10},
  pages        = {414--420},
  publisher    = {Elsevier},
  series       = {Trends in Molecular Medicine},
  title        = {Huntington's disease: a synaptopathy?},
  url          = {http://dx.doi.org/10.1016/j.molmed.2003.08.006},
  volume       = {9},
  year         = {2003},
}