Work

QSM ‐Based Evidence of Brain Iron Accumulation in THAP1 Dystonia with Biallelic Mutation

Year: 2025

Type: article

Abstract: The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions. Data S1. Supplementary Discussion: Extended discussion of the clinical and imaging findings with reference to relevant literature. Data S2. Supplementary Methods: Detailed description of the QSM methodology used in this study. TABLE S1. Functional and motor scores before and after deep brain stimulation (DBS) are presented. Following the implantation of combined GPi and STN DBS, STN stimulation was discontinued due to limited benefit, and only GPi DBS remained active during the two-year follow-up. The patient was more comfortable under GPi-only stimulation, with a BFMDRS score of 87.5 (improved from 94.5), and without any stimulation-induced side effects. Arrows (↑/↓) indicate worsening or improvement, respectively. Figure S1. Pedigree of the family. The proband, indicated by an arrow, is homozygous for the THAP1 variant (ENST00000254250.7:c.149A>G; p.Tyr50Cys). Individuals marked with a plus sign (+) underwent targeted variant analysis and were all found to be heterozygous carriers of this variant. Individuals IV-5 and IV-6 died at 7 and 8 months of age, respectively, before genetic testing could be performed. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Source: Movement Disorders Clinical Practice

DOI: 10.1002/mdc3.70432