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Twisting mice move the dystonia field forward

Petersén, Åsa LU and Kirik, Deniz LU (2014) In Journal of Clinical Investigation 124(7). p.2848-2850
Abstract
A common form of the hyperkinetic movement disorder dystonia is caused by mutations in the gene TOR1A (located within the DYT1 locus), which encodes the ATPase torsinA. The underlying neurobiological mechanisms that result in dystonia are poorly understood, and progress in the field has been hampered by the absence of a dystonia-like phenotype in animal models with genetic modification of Tor1a a. In this issue of the JCI, Liang et al. establish the first animal model with a dystonic motor phenotype and link torsinA hypofunction to the development of early neuropathological changes in distinct sensorimotor regions. The findings of this study will likely play an important role in elucidating the neural substrate for dystonia and should... (More)
A common form of the hyperkinetic movement disorder dystonia is caused by mutations in the gene TOR1A (located within the DYT1 locus), which encodes the ATPase torsinA. The underlying neurobiological mechanisms that result in dystonia are poorly understood, and progress in the field has been hampered by the absence of a dystonia-like phenotype in animal models with genetic modification of Tor1a a. In this issue of the JCI, Liang et al. establish the first animal model with a dystonic motor phenotype and link torsinA hypofunction to the development of early neuropathological changes in distinct sensorimotor regions. The findings of this study will likely play an important role in elucidating the neural substrate for dystonia and should stimulate systematic neuropathological and imaging studies in carriers of TOR1A mutations. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Journal of Clinical Investigation
volume
124
issue
7
pages
2848 - 2850
publisher
The Journal of Clinical Investigation
external identifiers
  • wos:000338688400010
  • scopus:84903753992
ISSN
0021-9738
DOI
10.1172/JCI76624
language
English
LU publication?
yes
id
7a5558c1-3a0c-478d-aea8-0528b6edf764 (old id 4601912)
date added to LUP
2014-09-05 08:59:54
date last changed
2017-01-01 06:23:20
@misc{7a5558c1-3a0c-478d-aea8-0528b6edf764,
  abstract     = {A common form of the hyperkinetic movement disorder dystonia is caused by mutations in the gene TOR1A (located within the DYT1 locus), which encodes the ATPase torsinA. The underlying neurobiological mechanisms that result in dystonia are poorly understood, and progress in the field has been hampered by the absence of a dystonia-like phenotype in animal models with genetic modification of Tor1a a. In this issue of the JCI, Liang et al. establish the first animal model with a dystonic motor phenotype and link torsinA hypofunction to the development of early neuropathological changes in distinct sensorimotor regions. The findings of this study will likely play an important role in elucidating the neural substrate for dystonia and should stimulate systematic neuropathological and imaging studies in carriers of TOR1A mutations.},
  author       = {Petersén, Åsa and Kirik, Deniz},
  issn         = {0021-9738},
  language     = {eng},
  number       = {7},
  pages        = {2848--2850},
  publisher    = {The Journal of Clinical Investigation},
  series       = {Journal of Clinical Investigation},
  title        = {Twisting mice move the dystonia field forward},
  url          = {http://dx.doi.org/10.1172/JCI76624},
  volume       = {124},
  year         = {2014},
}