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E14 Neuroimaging biomarkers in Huntington’s disease
  1. Nadine A van de Zande1,
  2. Eidrees Ghariq2,3,
  3. Jeroen HJM de Bresser2,
  4. Raymund AC Roos1,
  5. Susanne T de Bot1
  1. 1Department of Neurology, Leiden University Medical Centre, Leiden, the Netherlands
  2. 2Department of Radiology, Leiden University Medical Centre, Leiden, the Netherlands
  3. 3Department of Radiology, Medical Spectrum Twente, Enschede, the Netherlands


Background Objective biomarkers are of great importance in the prediction of disease onset and monitoring of patients with Huntington’s disease (HD). Due to its non-invasive character, neuroimaging can provide convenient biomarkers. We aimed to overview all neuroimaging biomarkers studied in HD and evaluate which is the best marker for disease progression and applicability in future clinical trials.

Methods In this review, all neuroimaging HD-studies in humans until 2021 were included. We included structural MRI, functional MRI (fMRI) and PET-scans and describe the associations found with disease progression. Structural MRI sequences varied from volume-based measurements, diffusion tensor imaging, to Magnetic Resonance Spectroscopy (MRS) and iron-sensitive MRI.

Results Striatal volume loss is one the most robust markers for disease progression. In more advanced disease stages cortical volume loss was identified. Other valuable markers, earlier in the disease course, are decreased uptake of PET-radiotracers that bind to glucose, PDE10A and dopaminergic receptors. Radiotracers specific for HD-pathophysiology, quantification of metabolites using MRS, quantification of iron, analysis of diffusion and fMRI, could all have the potential to detect HD earlier. There is, however, still a deficit of evidence in this area.

Conclusions The current identified neuroimaging biomarkers have limited value for prediction of disease onset and monitoring of patients, as they are hampered by a suboptimal correlation with clinical characteristics. The future of neuroimaging markers lies within standardized, multimodal imaging, tested in multicentered studies. They could ultimately be used as clinical outcome measures for clinical trials and could improve the management and treatment of HD-patients.

  • Huntington’s disease
  • neuroimaging
  • biomarkers
  • MRI
  • PET

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