Twisting mice move the dystonia field forward
Författare
Summary, in English
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.
Avdelning/ar
Publiceringsår
2014
Språk
Engelska
Sidor
2848-2850
Publikation/Tidskrift/Serie
Journal of Clinical Investigation
Volym
124
Issue
7
Fulltext
- Available as HTML - 22 kB
- Download statistics
Dokumenttyp
Artikel i tidskrift
Förlag
The American Society for Clinical Investigation
Ämne
- Neurosciences
Status
Published
Forskningsgrupp
- Translational Neuroendocrinology
- Brain Repair and Imaging in Neural Systems (BRAINS)
ISBN/ISSN/Övrigt
- ISSN: 0021-9738