Creutzfeldt-Jakob disease associated with peripheral neuropathy

Abstract

We describe the case of a patient with sporadic Creutzfeldt-Jakob disease (sCJD) with associated peripheral neuropathy and discuss the literature on this topic. A patient with autopsy proven CJD presented with the clinical signs of a sensory (large fibres) polyneuropathy. The neurophysiologic study showed a sensory-motor polyneuropathy with predominant axonal pattern, without denervation signs. Peripheral neuropathy may be associated with CJD but the significance of such association is yet undefined; it may accompany or even precede the onset of clinical picture of CJD and there is no unique electrophysiological pattern. In the few investigated cases no prion protein (PrP) deposits have been found in the peripheral nerves, whereas PrP deposits have been detected in some dorsal root ganglia neurons. In conclusion, the frequency of peripheral neuropathy in CJD could be currently underestimated. The peripheral nervous system should be thoroughly investigated in all cases of CJD in order to share light on the significance of this association. Our case also reminds of the usefulness of CSF neuron-specific enolase determination in the early stage of CJD as an easily available diagnostic tool.