https://scholars.lib.ntu.edu.tw/handle/123456789/554376
Title: | Correlation of dystonia severity and iron accumulation in Rett syndrome | Authors: | Jan, Tz-Yun LEE-CHIN WONG Yang, Ming-Tao Huang, Chien-Feng Judith Hsu, Chia-Jui STEVEN SHINN-FORNG PENG Tseng, Wen-Yih Isaac WANG-TSO LEE |
Issue Date: | 12-Jan-2021 | Journal Volume: | 11 | Journal Issue: | 1 | Source: | Scientific reports | 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. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/554376 | ISSN: | 2045-2322 | DOI: | 10.1038/s41598-020-80723-1 | SDG/Keyword: | iron; MECP2 protein, human; methyl CpG binding protein 2; adolescent; adult; brain mapping; case control study; child; dystonic disorder; female; genetics; gray matter; human; iron overload; metabolism; mutation; nuclear magnetic resonance imaging; pathology; preschool child; procedures; Rett syndrome; severity of illness index; young adult; Adolescent; Adult; Brain Mapping; Case-Control Studies; Child; Child, Preschool; Dystonic Disorders; Female; Gray Matter; Humans; Iron; Iron Overload; Magnetic Resonance Imaging; Methyl-CpG-Binding Protein 2; Mutation; Rett Syndrome; Severity of Illness Index; Young Adult |
Appears in Collections: | 醫學院附設醫院 (臺大醫院) |
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