Correlation of dystonia severity and iron accumulation in Rett syndrome
Journal
Scientific reports
Journal Volume
11
Journal Issue
1
Date Issued
2021-01-12
Author(s)
Jan, Tz-Yun
Yang, Ming-Tao
Huang, Chien-Feng Judith
Hsu, Chia-Jui
Tseng, Wen-Yih Isaac
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.
SDGs
Other Subjects
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
Type
journal article