Twisting mice move the dystonia field forward
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/4601912
- author
- Petersén, Åsa LU and Kirik, Deniz LU
- organization
- publishing date
- 2014
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Journal of Clinical Investigation
- volume
- 124
- issue
- 7
- pages
- 2848 - 2850
- publisher
- The American Society for 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
- 2016-04-01 14:42:06
- date last changed
- 2022-01-28 02:03:39
@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 American Society for Clinical Investigation}}, series = {{Journal of Clinical Investigation}}, title = {{Twisting mice move the dystonia field forward}}, url = {{https://lup.lub.lu.se/search/files/4116107/7864290}}, doi = {{10.1172/JCI76624}}, volume = {{124}}, year = {{2014}}, }