Headache attributed to craniocervical dystonia has been poorly studied. There is a need for more studies to evaluate its characteristics and treatment.

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thalamus, supplementary motor area (SMA), precentral gyrus (PrecG), postcentral gyrus (PostcG), and the cerebellum were extracted using the Neuromorphometrics brain atlas. We selected the side-averaged regions of interest (ROIs) based on their involvement in the development of dystonia. 5 In addition, the occipital lobe (OccL) served as a control ROI because it is not implicated in the pathophysiology of dystonia. Extracted ROI values were scaled to the total intracranial volume (TIV) and z-transformed. More details on the methods and the case description can be found in the Supporting Information Methods and Video S1.The volumetry values of our index patient were within the reference range of the control group (Supporting Information Fig. S1D). The assessment of tNa content demonstrated marked differences for most of the earlier-mentioned ROIs contrary to the control ROI (Fig. 1C). The cerebellum showed the highest tNa z-score (6.29) and also the highest IR-Na zscore (2.79) (Fig. 1D).Our study provides the first in-vivo evidence that sodium predominantly accumulates in the cerebellum of patients with RDP, which appears to be driven by intracellular accumulation. The measurement of a sodium disequilibrium is supported by previous reports showing pathophysiological involvement of the cerebellum in the development of ATP1A3-related disorders and other forms of dystonia. 5,6 In rodent models, cerebellar injection of ouabain (a pharmacological inhibitor of the Na + / K + -ATPase enzyme) or an ATP1A3-directed small hairpin RNA leads to the development of dystonia-like phenotypes. 7 In addition, cerebellar pathologies either caused by structural lesions or consequent to inherited ataxias can result in dystonia in humans. 5 Overall, these results indicate that tNa and IR-Na imaging may be suitable for studying ATP1A3-related disorders and should be applied once it becomes broadly available to future clinical trials. Future studies in patients with other forms of dystonia or parkinsonism are needed to evaluate the pathophysiological specificity of 23 Na-MRI in ATP1A3-related neurological disorders.