Twisting mice move the dystonia field forward

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Abstract

A common form of the hyperkinetic movement disorder dystonia is caused by mutations in the geneTOR1A(located within theDYT1locus), 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 ofTor1a. In this issue of theJCI, 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 ofTOR1Amutations.

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