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. 2021 Jan 12;11(1):838.
doi: 10.1038/s41598-020-80723-1.

Correlation of dystonia severity and iron accumulation in Rett syndrome

Tz-Yun Jan #  1 , Lee-Chin Wong #  2 , Ming-Tao Yang #  3   4 , Chien-Feng Judith Huang  5   6 , Chia-Jui Hsu  7 , Steven Shinn-Forng Peng  8 , Wen-Yih Isaac Tseng  1   5   9   10 , Wang-Tso Lee  11   12
Affiliations

Correlation of dystonia severity and iron accumulation in Rett syndrome

Tz-Yun Jan et al. Sci Rep. .

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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Conflict of interest statement

The authors declare no competing interests.

Figures

Figure 1
Figure 1
SWI hypointensity score in five deep gray matter. Stacked column chart descripted the percentage of visual grading scale for hypointensity of RTT group and control group. Significant difference was noted in substantia nigra (p = 0.014). Generally, hypointensity signal was higher in RTT group than the controls, except the signal in thalamus. (CTL control group, RTT Rett syndrome, SN substantia nigra, CN caudate nucleus, PU putamen, GP globus pallidus, TH thalamus).
Figure 2
Figure 2
Scatter plots of the estimated age-related regression between age and contrast ratio. Regression model indicated the contrast ratio decreased significantly with age in both RTT and control groups. However, the contrast ratios were lower in RTT. The green cross/bold line was the data for RTT, and the blue square/dash line was the data for the controls.
Figure 3
Figure 3
Susceptibility-weighted images in healthy control (A,C) and Rett syndrome patient (B,D) showing the relative hypointensity in globus pallidus (B, arrow) and substantia nigra (D, arrowhead) in Rett syndrome.
See this image and copyright information in PMC

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