Evaluation of iron deposition in the motor CSTC loop of a Chinese family with paroxysmal kinesigenic dyskinesia using quantitative susceptibility mapping

Frontiers in Neurology · 8 authors, 3 centres

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The central result was that PKD patients had altered brain iron levels, with generally elevated susceptibility in cortical gray matter regions like the bilateral M1 and PMv, and generally lower susceptibility in subcortical nuclei like the bilateral substantia nigra.

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Eight PKD patients and ten healthy family members from a single Chinese pedigree with a shared PRRT2 gene mutation underwent 3T MRI. The study compared susceptibility values, a measure related to iron content, in regions of the motor cortico-striatal-thalamo-cortical loop. Results showed PKD patients had significantly higher susceptibility values in cortical gray matter, particularly in the bilateral primary motor cortex (M1) and ventral premotor cortex (PMv). Conversely, they had significantly lower susceptibility values in subcortical nuclei, most notably in the bilateral substantia nigra pars reticulata (SNpr). Sensitivity analyses for brain volume supported these findings. The authors suggest an imbalance in brain iron levels may play a role in PKD pathogenesis. Limitations include the small, cross-sectional sample size from a single genetic mutation and the lack of histopathological validation, which limits generalizability and the ability to determine causality.

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cohort

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neurology

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ORIGINAL PAPER

PMC10358764

Evaluation of iron deposition in the motor CSTC loop of a Chinese family with paroxysmal kinesigenic dyskinesia using quantitative susceptibility mapping

Frontiers in Neurology

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ABSTRACT

Abstract Introduction Previous studies have revealed structural, functional, and metabolic changes in brain regions inside the cortico-striatal-thalamo-cortical (CSTC) loop in patients with paroxysmal kinesigenic dyskinesia (PKD), whereas no quantitative susceptibility mapping (QSM)-related studies have explored brain iron deposition in these areas. Methods A total of eight familial PKD patients and 10 of their healthy family members (normal controls) were recruited and underwent QSM on a 3T magnetic resonance imaging system. Magnetic susceptibility maps were reconstructed using a multi-scale dipole inversion algorithm. Thereafter, we specifically analyzed changes in local mean susceptibility values in cortical regions and subcortical nuclei inside the motor CSTC loop. Results Compared with normal controls, PKD patients had altered brain iron levels. In the cortical gray matter area involved with the motor CSTC loop, susceptibility values were generally elevated, especially in the bilateral M1 and PMv regions. In the subcortical nuclei regions involved with the motor CSTC loop, susceptibility values were generally lower, especially in the bilateral substantia nigra regions. Conclusion Our results provide new evidence for the neuropathogenesis of PKD and suggest that an imbalance in brain iron levels may play a role in PKD. Keywords: paroxysmal kinesigenic dyskinesia (PKD), cortico-striatal-thalamo-cortical loop, quantitative susceptibility mapping (QSM), multi-scale dipole inversion, iron deposition

CITATION EXPORT

Fangfang Xie, Ting Mao, Jingyi Tang et al.. Evaluation of iron deposition in the motor CSTC loop of a Chinese family with paroxysmal kinesigenic dyskinesia using quantitative susceptibility mapping. Frontiers in Neurology. (2023). https://doi.org/10.3389/fneur.2023.1164600

AUTHORS

8 · 3 CENTRES

Fangfang Xie, Ting Mao, Jingyi Tang, Linmei Zhao, Jiuqing Guo, Huashan Lin, Dongcui Wang, Gaofeng Zhou

1Department of Radiology, Xiangya Hospital, Central South University, Changsha, China
2Department of Pharmaceutical Diagnosis, GE Healthcare, Changsha, China
3National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China