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Objective <p>Pathophysiological backgrounds of idiopathic Parkinson’s disease (IPD) and autosomal recessive monogenic Parkinson’s disease (AR-PD) have common features that can be assessed through multimodal imaging. In this study, the striatal and myocardial dopaminergic innervation, brain 18F-FDG metabolism, resting-state functional activity of basal ganglia network (BGN) and white-matter (WM) microstructure were evaluated in AR-PD with respect to IPD, to investigate whether AR-PD can be subtyped as “brain-first” parkinsonism according to recent etiopathogenetic classification effort.</p> Methods <p>Forty patients (17 with Parkin, 3 with DJ-1 mutations and 20 with IPD) were included. Striatal dopaminergic innervation was assessed semi-quantitatively by 18F-DOPA PET, and cardiac 18F-DOPA uptake was also evaluated. Brain 18F-FDG PET images were evaluated visually. Resting-state functional MRI and diffusion tensor imaging (DTI) were used to assess the BGN activity and WM microstructural alterations.</p> Results <p>AR-PD patients showed significantly decreased 18F-DOPA uptake in caudate corpus compared to both IPD and controls, with a more symmetrical striatal dopaminergic denervation. Myocardial 18F-DOPA uptake in AR-PD was similar to controls, while it was significantly reduced in IPD. There was no significant difference in cortical 18F-FDG metabolism and functional activity of BGN between PD groups. The DTI data revealed more extensive WM microstructural damage in AR-PD compared to IPD.</p> Conclusions <p>AR-PD group showed additional significant decreased 18F-DOPA uptake in caudate corpus and more symmetrical striatal denervation. Additionally, relatively preserved myocardial innervation, cortical metabolic and WM microstructural changes suggest the possibility of “brain-first” type progression in AR-PD. Also, 18F-DOPA PET/CT may be a practical tool for evaluating dopaminergic innervation of striatum and heart together, but further evaluation is needed in this area.</p>

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Multimodal imaging analysis of autosomal recessive Parkinson’s disease

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年4月24日

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  • Başak Soydaş-Turan,
  • Gül Yalçın-Çakmaklı,
  • Eser Lay Ergün,
  • Hacer Dasgin,
  • Kader Karli Oguz,
  • Bulent Elibol,
  • Omer Ugur,
  • Bilge Volkan-Salanci

摘要

Objective

Pathophysiological backgrounds of idiopathic Parkinson’s disease (IPD) and autosomal recessive monogenic Parkinson’s disease (AR-PD) have common features that can be assessed through multimodal imaging. In this study, the striatal and myocardial dopaminergic innervation, brain 18F-FDG metabolism, resting-state functional activity of basal ganglia network (BGN) and white-matter (WM) microstructure were evaluated in AR-PD with respect to IPD, to investigate whether AR-PD can be subtyped as “brain-first” parkinsonism according to recent etiopathogenetic classification effort.

Methods

Forty patients (17 with Parkin, 3 with DJ-1 mutations and 20 with IPD) were included. Striatal dopaminergic innervation was assessed semi-quantitatively by 18F-DOPA PET, and cardiac 18F-DOPA uptake was also evaluated. Brain 18F-FDG PET images were evaluated visually. Resting-state functional MRI and diffusion tensor imaging (DTI) were used to assess the BGN activity and WM microstructural alterations.

Results

AR-PD patients showed significantly decreased 18F-DOPA uptake in caudate corpus compared to both IPD and controls, with a more symmetrical striatal dopaminergic denervation. Myocardial 18F-DOPA uptake in AR-PD was similar to controls, while it was significantly reduced in IPD. There was no significant difference in cortical 18F-FDG metabolism and functional activity of BGN between PD groups. The DTI data revealed more extensive WM microstructural damage in AR-PD compared to IPD.

Conclusions

AR-PD group showed additional significant decreased 18F-DOPA uptake in caudate corpus and more symmetrical striatal denervation. Additionally, relatively preserved myocardial innervation, cortical metabolic and WM microstructural changes suggest the possibility of “brain-first” type progression in AR-PD. Also, 18F-DOPA PET/CT may be a practical tool for evaluating dopaminergic innervation of striatum and heart together, but further evaluation is needed in this area.