093 CJD and motor neuron disease: a growing association

Introduction Amyotrophy in Creutzfeldt-Jakob Disease (CJD) is rarely a conspicuous clinical finding. The overlap of CJD (a prionopathy) and motor neuron disease is reported in the literature but it remains to be established whether the neuronopathy is an integral part of CJD presentation, or, whether this represents a distinct variety. Our case describes a male patient with clincopathological diagnosis of sporadic CJD along with evidence of motor neuronopathy on nerve conduction studies. Case Summary At presentation to our neurology service, the patient was a 72-year-old male, living at home with his wife. He was initially referred for progressive short-term memory loss, personality change, and gait disturbance. On review, it was noted that in addition to gait and limb ataxia, and cognitive impairment, he demonstrated prominent generalised fasciculation. Nerve conduction and electromyography studies showed normal nerve conduction but fasciculations in proximal and distal muscle groups of the left upper and lower limbs, in keeping with a motor neuronopathy. CSF 14-3-3 and EEG provided little bearing. MRI demonstrated progressive T2-hyperintense, diffusion-restricted lesions in the bilateral basal ganglia, thalami and medial frontal cortices consistent with CJD. Post-mortem examination demonstrated spongiform encephalopathy and immunohistological staining (12F10) in-keeping with diagnosis of CJD. Conclusion In our patient, the combination of clinical and neurophysiologic features of motor neuron disease and a confirmed diagnosis of Creutzfeldt-Jakob Disease raises the vexed question of whether this represents a distinct overlap syndrome or an infrequent manifestation of the same pathology. Further research is required to establish this.