An attentive reader pointed out several remarks we wish to answer. 1. The paper by Ruiz et al.is cited as a TOR1A knock-in, whereas in fact it is a THAP1 knock-in. The authors regret this error. Consequently, the paragraph citing this reference (P. 29, line 13) might be shifted to P.30 line 19 (paragraph concerning the pathophysiology of THAP1 dystonia). 2. The regulatory relationship between THAP1 and TOR1A described in a 2010 paper using an in vitro system is now widely believed to be an in vitro artifact. Although binding of THAP1 to TOR1A regulatory regions was also shown, nobody has been able to show any regulation in vivo in any system. We have no specific comment on this point which falls beyond our competencies. 3. There is an extensive literature demonstrating a deficit in dopamine release in mouse models of genetic dystonia which is not considered in this review, and is highly relevant to any hypothesis regarding the role of dopamine in dystonia. We agree that some experimental data in rodents, might provide arguments supporting a reduced production of dopamine in DYT1 dystonia (Baclioglu et al., 2007; Song et al., 2012). However, the situation in humans is less clear. Positron emission tomography studies with the radioligand [C11]raclopride (RAC), found a bilateral decrease in the RAC binding potential (BP) in focal dystonia (Simonyan et al., 2013; Berman et al., 2013) but not in DYT1 dystonia and the binding of the RAC remains an indirect approach for studying the release of dopamine. Moreover, there is little post-mortem evidence supporting specific cellular morphologic changes in DYT1 dystonia at the light microscopic level in human tissue, including neurons in the substantia nigra pars compacta (Pratt et al., 2016). In order to take into account remarks of this reader, the connection between DA neurons and iSPN or dSPN in Fig. 4C could have been represented with a thinner line than in the diagram illustrating the normal situation (Fig. 4A). The authors would like to apologise for any inconvenience caused.
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