Correlation of dystonia severity and iron accumulation in Rett syndrome

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...

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Autores principales:	Tz-Yun Jan, Lee-Chin Wong, Ming-Tao Yang, Chien-Feng Judith Huang, Chia-Jui Hsu, Steven Shinn-Forng Peng, Wen-Yih Isaac Tseng, Wang-Tso Lee
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/fe7bb9e855b840e0a70d301088476809
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spelling	oai:doaj.org-article:fe7bb9e855b840e0a70d3010884768092021-12-02T15:23:05ZCorrelation of dystonia severity and iron accumulation in Rett syndrome10.1038/s41598-020-80723-12045-2322https://doaj.org/article/fe7bb9e855b840e0a70d3010884768092021-01-01T00:00:00Zhttps://doi.org/10.1038/s41598-020-80723-1https://doaj.org/toc/2045-2322Abstract 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.Tz-Yun JanLee-Chin WongMing-Tao YangChien-Feng Judith HuangChia-Jui HsuSteven Shinn-Forng PengWen-Yih Isaac TsengWang-Tso LeeNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Tz-Yun Jan Lee-Chin Wong Ming-Tao Yang Chien-Feng Judith Huang Chia-Jui Hsu Steven Shinn-Forng Peng Wen-Yih Isaac Tseng Wang-Tso Lee Correlation of dystonia severity and iron accumulation in Rett syndrome
description	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.
format	article
author	Tz-Yun Jan Lee-Chin Wong Ming-Tao Yang Chien-Feng Judith Huang Chia-Jui Hsu Steven Shinn-Forng Peng Wen-Yih Isaac Tseng Wang-Tso Lee
author_facet	Tz-Yun Jan Lee-Chin Wong Ming-Tao Yang Chien-Feng Judith Huang Chia-Jui Hsu Steven Shinn-Forng Peng Wen-Yih Isaac Tseng Wang-Tso Lee
author_sort	Tz-Yun Jan
title	Correlation of dystonia severity and iron accumulation in Rett syndrome
title_short	Correlation of dystonia severity and iron accumulation in Rett syndrome
title_full	Correlation of dystonia severity and iron accumulation in Rett syndrome
title_fullStr	Correlation of dystonia severity and iron accumulation in Rett syndrome
title_full_unstemmed	Correlation of dystonia severity and iron accumulation in Rett syndrome
title_sort	correlation of dystonia severity and iron accumulation in rett syndrome
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/fe7bb9e855b840e0a70d301088476809
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Correlation of dystonia severity and iron accumulation in Rett syndrome

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