Progressive ataxia and cognitive decline in a 67-year-old male: a diagnostic challenge

Dina Osman, Alice Weidner, Mayuri Madhra
2020 The Journal of the Royal College of Physicians of Edinburgh  
We report the case of a 67-year-old male who presented with a six-week history of progressive unsteadiness, cognitive impairment and weight loss, in the context of a recent bereavement. Magnetic resonance imaging (MRI) performed several weeks earlier excluded acute stroke. Examination revealed gross bilateral ataxia, bradyphrenia and physical manifestations of depression. Collateral history suggested rapidly progressing symptoms over three months. Repeat MRI head showed features suggestive of
more » ... eutzfeldt-Jakob disease (CJD) including T2 hyperintensities in the basal ganglia. Cerebrospinal ˜fluid (CSF) samples were positive for 14-3-3 protein, S100b and real-time quaking-induced conversion (RT-QuIC) proteins confirming the diagnosis of sporadic CJD (sCJD).
doi:10.4997/jrcpe.2020.313 pmid:32936103 fatcat:qdelagkybfg37gnfcrbejteo7q