Creutzfeldt – Jakob disease (CJD) is a subacute spongiform encephalopathy characterised by rapidly progressive dementia and is difficult to diagnose antemortem. We present the case of a 21-year-old woman with a family history of early-onset neurological disease of unclear aetiology. She had a 2-year history of rapidly progressive cognitive decline, cogwheel rigidity in all four limbs and ataxia. After initial evaluation, she was referred to the nuclear medicine centre for 99mTc-TRODAT SPECT, which revealed mildly reduced uptake of the presynaptic radiotracer in the right caudate and left putamen, consistent with dopaminergic dysfunction. 99mTc-ECD perfusion SPECT showed widespread cortical hypoperfusion, including involvement of the right thalamus and cerebellum, indicative of global neuronal dysfunction. MRI revealed high signal intensity on diffusion-weighted imaging, and 11C-deuterium-L-deprenyl PET/CT demonstrated reactive astrocytosis. The final diagnosis was probable CJD according to the Centers for Disease Control and Prevention criteria. Follow-up revealed that the patient belonged to a family carrying a missense mutation in the PRNP gene (G114V). These findings describe the neuroimaging phenotype of an early-onset familial CJD and highlight the role of multimodal brain imaging in both the diagnosis and pathophysiological understanding of movement disorders in this condition.
Pascovich et al. (Fri,) studied this question.