Objective: Here, we applied non-invasive ²³Na Magnetic Resonance Imaging to study pathophysiology-related changes in the total and intracellular sodium content in a patient with rapid-onset dystonia-parkinsonism caused by an ATP1A3 mutation.

Background: Rapid-onset dystonia-parkinsonism is a rare and debilitating disorder with sudden or subacute disease onset in most patients. Even though the molecular causes can be attributed to mutations in the ATP1A3 gene, which encodes a sodium-potassium Na⁺/K⁺-ATPase, the disease mechanisms are in general poorly understood and reliable neuroimaging biomarkers are lacking.

Method: We performed total (tNa) and intracellular-weighted (IR-Na) ²³Na imaging and compared the mean voxel intensities of disease-related neuroanatomical regions to a group of seven healthy volunteers.

Results: Both, tNa and IR-Na imaging revealed a marked brain sodium dyshomeostasis in our patient. In particular, the cerebellum was more severely affected than other regions favoring a direct involvement of the cerebellum in the disease mechanisms of ATP1A3-related rapid-onset dystonia-parkinsonism.

Conclusion: Our study demonstrates the applicability of the novel ²³Na imaging contrast to gain deepened insights into the pathophysiology of ATP1A3-related diseases in vivo. In the absence of profound neuroanatomical changes, this imaging modality is suitable for studying ATP1A3-related disorders and could be applied in future clinical trials as a state and potentially trait biomarker.

References: n/a

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MDS Abstracts - https://www.mdsabstracts.org/abstract/cerebellar-sodium-disequilibrium-in-a-patient-with-atp1a3-related-rapid-onset-dystonia-parkinsonism/