Correlation of dystonia severity and iron accumulation in Rett syndrome

• Published in: Scientific reports Vol. 11; no. 1; pp. 838 - 9
• Main Authors: Jan, Tz-Yun, Wong, Lee-Chin, Yang, Ming-Tao, Huang, Chien-Feng Judith, Hsu, Chia-Jui, Peng, Steven Shinn-Forng, Tseng, Wen-Yih Isaac, Lee, Wang-Tso
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 12.01.2021; Nature Publishing Group; Nature Portfolio
• Subjects: 692/1807; 692/617; Accumulation; Adolescent; Adult; Age; Basal ganglia; Brain Mapping - methods; Case-Control Studies; Caudate nucleus; Central nervous system diseases; Child; Child, Preschool; Dopamine receptors; Dystonia; Dystonic Disorders - metabolism; Dystonic Disorders - pathology; Female; Globus pallidus; Gray Matter - metabolism; Gray Matter - pathology; Humanities and Social Sciences; Humans; Iron; Iron - metabolism; Iron Overload - genetics; Iron Overload - metabolism; Iron Overload - pathology; Magnetic Resonance Imaging - methods; MeCP2 protein; Methyl-CpG binding protein; Methyl-CpG-Binding Protein 2 - genetics; Movement disorders; multidisciplinary; Mutation; Putamen; Rett syndrome; Rett Syndrome - genetics; Rett Syndrome - metabolism; Science; Science (multidisciplinary); Severity of Illness Index; Substantia grisea; Substantia nigra; Thalamus; Young Adult

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 acc...