Rapid-onset dystonia-parkinsonism is associated with reduced cerebral blood flow without gray matter changes.

Autor:	Whitlow CT; Section of Neuroradiology, Department of Radiology, Wake Forest University School of Medicine, Winston-Salem, NC, United States.; Department of Biomedical Engineering, Wake Forest University School of Medicine, Winston-Salem, NC, United States.; Clinical and Translational Science Institute, Wake Forest University School of Medicine, Winston-Salem, NC, United States.; Department of Biostatistics and Data Science, Wake Forest University School of Medicine, Winston-Salem, NC, United States., Atcheson KM; Section of Neuroradiology, Department of Radiology, Wake Forest University School of Medicine, Winston-Salem, NC, United States., Snively BM; Clinical and Translational Science Institute, Wake Forest University School of Medicine, Winston-Salem, NC, United States.; Department of Biostatistics and Data Science, Wake Forest University School of Medicine, Winston-Salem, NC, United States., Cook JF; Department of Psychiatry and Behavioral Medicine, Wake Forest University School of Medicine, Winston-Salem, NC, United States., Kim J; Section of Neuroradiology, Department of Radiology, Wake Forest University School of Medicine, Winston-Salem, NC, United States., Haq IU; Department of Neurology, University of Miami, Miami, FL, United States., Sweadner KJ; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA, United States., Ozelius LJ; Department of Neurology, Massachusetts General Hospital, Boston, MA, United States., Brashear A; Department of Neurology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY, United States.
Jazyk:	angličtina
Zdroj:	Frontiers in neurology [Front Neurol] 2023 Jan 26; Vol. 14, pp. 1116723. Date of Electronic Publication: 2023 Jan 26 (Print Publication: 2023).
DOI:	10.3389/fneur.2023.1116723
Abstrakt:	Purpose: Previous research showed discrete neuropathological changes associated with rapid-onset dystonia-parkinsonism (RDP) in brains from patients with an ATP1A3 variant, specifically in areas that mediate motor function. The purpose of this study was to determine if magnetic resonance imaging methodologies could identify differences between RDP patients and variant-negative controls in areas of the brain that mediate motor function in order to provide biomarkers for future treatment or prevention trials. Methods: Magnetic resonance imaging voxel-based morphometry and arterial spin labeling were used to measure gray matter volume and cerebral blood flow, respectively, in cortical motor areas, basal ganglia, thalamus, and cerebellum, in RDP patients with ATP1A3 variants ( n = 19; mean age = 37 ± 14 years; 47% female) and variant-negative healthy controls ( n = 11; mean age = 34 ± 19 years; 36% female). Results: We report age and sex-adjusted between group differences, with decreased cerebral blood flow among patients with ATP1A3 variants compared to variant-negative controls in the thalamus ( p = 0.005, Bonferroni alpha level < 0.007 adjusted for regions). There were no statistically significant between-group differences for measures of gray matter volume. Conclusions: There is reduced cerebral blood flow within brain regions in patients with ATP1A3 variants within the thalamus. Additionally, the lack of corresponding gray matter volume differences may suggest an underlying functional etiology rather than structural abnormality. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2023 Whitlow, Atcheson, Snively, Cook, Kim, Haq, Sweadner, Ozelius and Brashear.)
Databáze:	MEDLINE
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