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Abstract
Individuals with Rett syndrome (RTT) commonly demonstrate Parkinsonian features and dystonia at teen age; however, the pathological reason remains unclear. Abnormal iron accumulation in deep gray matter were reported in some Parkinsonian-related disorders. In this study, we investigated the iron accumulation in deep gray matter of RTT and its correlation with dystonia severity. We recruited 18 RTT-diagnosed participants with MECP2 mutations, from age 4 to 28, and 28 age-gender matched controls and investigated the iron accumulation by susceptibility weighted image (SWI) in substantia nigra (SN), globus pallidus (GP), putamen, caudate nucleus, and thalamus. Pearson’s correlation was applied for the relation between iron accumulation and dystonia severity. In RTT, the severity of dystonia scales showed significant increase in subjects older than 10 years, and the contrast ratios of SWI also showed significant differences in putamen, caudate nucleus and the average values of SN, putamen, and GP between RTT and controls. The age demonstrated moderate to high negative correlations with contrast ratios. The dystonia scales were correlated with the average contrast ratio of SN, putamen and GP, indicating iron accumulation in dopaminergic system and related grey matter. As the first SWI study for RTT individuals, we found increased iron deposition in dopaminergic system and related grey matter, which may partly explain the gradually increased dystonia.
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1 National Taiwan University, Graduate Institute of Brain and Mind Sciences, College of Medicine, Taipei, Taiwan (GRID:grid.19188.39) (ISNI:0000 0004 0546 0241)
2 Cathay General Hospital, Department of Pediatrics, Taipei, Taiwan (GRID:grid.413535.5) (ISNI:0000 0004 0627 9786)
3 Far Eastern Memorial Hospital, Department of Pediatrics, New Taipei City, Taiwan (GRID:grid.414746.4) (ISNI:0000 0004 0604 4784); Yuan Ze University, Department of Chemical Engineering and Materials Science, Taoyuan, Taiwan (GRID:grid.413050.3) (ISNI:0000 0004 1770 3669)
4 National Taiwan University College of Medicine, Institute of Medical Device and Imaging, Taipei, Taiwan (GRID:grid.19188.39) (ISNI:0000 0004 0546 0241); National Taiwan University College of Medicine, Institute of Biomedical Engineering, Taipei, Taiwan (GRID:grid.19188.39) (ISNI:0000 0004 0546 0241)
5 National Taiwan University Hospital SinChu Branch, Department of Pediatrics, Taipei, Taiwan (GRID:grid.412094.a) (ISNI:0000 0004 0572 7815)
6 National Taiwan University Hospital and National Taiwan University College of Medicine, Department of Medical Imaging, Taipei, Taiwan (GRID:grid.19188.39) (ISNI:0000 0004 0546 0241)
7 National Taiwan University, Graduate Institute of Brain and Mind Sciences, College of Medicine, Taipei, Taiwan (GRID:grid.19188.39) (ISNI:0000 0004 0546 0241); National Taiwan University College of Medicine, Institute of Medical Device and Imaging, Taipei, Taiwan (GRID:grid.19188.39) (ISNI:0000 0004 0546 0241); National Taiwan University Hospital and National Taiwan University College of Medicine, Department of Medical Imaging, Taipei, Taiwan (GRID:grid.19188.39) (ISNI:0000 0004 0546 0241); National Taiwan University, Molecular Imaging Center, Taipei, Taiwan (GRID:grid.19188.39) (ISNI:0000 0004 0546 0241)
8 National Taiwan University, Graduate Institute of Brain and Mind Sciences, College of Medicine, Taipei, Taiwan (GRID:grid.19188.39) (ISNI:0000 0004 0546 0241); National Taiwan University Hospital and National Taiwan University College of Medicine, Department of Pediatrics, Taipei, Taiwan (GRID:grid.19188.39) (ISNI:0000 0004 0546 0241)