1. Correlation of dystonia severity and iron accumulation in Rett syndrome
- Author
-
Chien-Feng Judith Huang, Chia-Jui Hsu, Wen-Yih Isaac Tseng, Steven Shinn-Forng Peng, Wang-Tso Lee, Tz-Yun Jan, Lee-Chin Wong, and Ming-Tao Yang
- Subjects
0301 basic medicine ,Methyl-CpG-Binding Protein 2 ,Caudate nucleus ,Severity of Illness Index ,0302 clinical medicine ,Gray Matter ,Child ,Signs and symptoms ,Dystonia ,Brain Mapping ,Multidisciplinary ,Putamen ,Dopaminergic ,Magnetic Resonance Imaging ,Globus pallidus ,medicine.anatomical_structure ,Neurology ,Dystonic Disorders ,Child, Preschool ,Medicine ,Female ,Adult ,medicine.medical_specialty ,congenital, hereditary, and neonatal diseases and abnormalities ,Iron Overload ,Adolescent ,Iron ,Science ,Rett syndrome ,Substantia nigra ,Grey matter ,Article ,Young Adult ,03 medical and health sciences ,Internal medicine ,Rett Syndrome ,medicine ,Humans ,business.industry ,medicine.disease ,nervous system diseases ,030104 developmental biology ,Endocrinology ,nervous system ,Case-Control Studies ,Mutation ,business ,030217 neurology & neurosurgery - 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.
- Published
- 2021