Background and purpose: Postmortem brain study indicated that cerebellar Purkinje cell (PC) loss might be a pathological finding in patients with inherited and idiopathic cervical dystonia (ICD). The analysis of conventional magnetic resonance imaging brain scans failed to yield support for this finding. Previous studies have identified that iron overload can be the consequence of neuron death. The objectives of this study were to investigate iron distribution and demonstrate changes in axons in the cerebellum, providing evidence for PC loss in patients with ICD.Methods: Twenty-eight patients with ICD (20 females) and 28 age-and sex-matched healthy controls were recruited. A spatially unbiased infratentorial template was applied to perform cerebellum optimized quantitative susceptibility mapping and diffusion tensor analysis based on magnetic resonance imaging. Voxel-wise analysis was performed to assess cerebellar tissue magnetic susceptibility and fractional anisotropy (FA) alterations, and the clinical relevance of these findings was investigated in the patients with ICD. Results:Increased susceptibility values revealed by quantitative susceptibility mapping in the right lobule CrusI, CrusII, VIIb, VIIIa, VIIIb and IX were found in the patients with ICD. A reduced FA value was found across almost all the cerebellum; an FA value of the significant clusters within the right lobule VIIIa significantly correlated with the motor severity of patients with ICD (r = −0.575, p = 0.002). Conclusions:Our study provided evidence for cerebellar iron overload and axonal damage in patients with ICD, which may indicate PC loss and related axonal changes. These results provide evidence for the neuropathological findings in patients with ICD and further highlight the cerebellar involvement in the pathophysiology of dystonia.
We found increased susceptibility in patients compared with HCs that primarily involved cerebellar structures . The result of 2D-flatmap visualization showed that the involved subregions of iron accumulation were in the right Crus Ⅱ and right lobule Ⅶb. Interestingly, no significant differences in QSM value of basal ganglia, thalamus, or motor cortex were observed between ICD patients and HCs. Moreover, there was no significant difference between groups regarding the GMV in the cerebellum. Of consistent findings with standard structural MRI technique highlights the potential of probing tissue iron across the cerebellum with QSM as a disease biomarker
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