Putaminal volume and diffusion in early familial Creutzfeldt-Jakob disease

Ilana Seror1, Hedok Lee, Oren S Cohen

  • 1Department of Psychiatry, Mount Sinai School of Medicine, P.O. Box 1230, One Gustave Levy Place, New York, NY 10029, USA.

Abstract

Insights

Diffusion MRI detects early Creutzfeldt-Jakob Disease (CJD) changes in the putamen, showing reduced diffusion but not atrophy. These findings in familial CJD patients confirm early diffusion abnormalities precede volume loss.

Area of Science:

  • Neuroimaging
  • Neurology
  • Radiology

Background:

  • The putamen is crucial in Creutzfeldt-Jakob Disease (CJD) pathophysiology.
  • Putaminal volume has not been previously measured in CJD.
  • Early CJD detection is vital for understanding disease progression.

Purpose of the Study:

  • Investigate early putaminal atrophy detection using MRI in CJD.
  • Assess if diffusion abnormalities precede volume loss in the putamen.
  • Compare manual and automated MRI segmentation methods for putamen analysis.

Main Methods:

  • Structural and diffusion MRI scans were performed on 12 familial CJD patients (E200K mutation) and 22 controls.
  • Putamen volume and mean Apparent Diffusion Coefficient (ADC) were calculated.
  • Two segmentation methods were used: manual tracing and FSL FIRST automated parcellation.

Main Results:

  • CJD patients exhibited significantly lower putaminal ADC values compared to controls (p<0.005).
  • No significant reduction in putaminal volume was detected in early-stage CJD patients.
  • Automated segmentation (FSL FIRST) provided comparable ADC values but smaller volumes than manual tracing.

Conclusions:

  • Reduced putaminal diffusion is detectable in early CJD using both manual and automated MRI methods.
  • Diffusion abnormalities in the putamen precede detectable volumetric atrophy in CJD.
  • Findings support and extend previous research on CJD pathophysiology and MRI markers.