Genetic Creutzfeldt-Jakob disease mimicking chronic inflammatory demyelinating polyneuropathy

Creutzfeldt-Jakob disease (CJD) is a relentlessly progressive neurodegenerative disorder, belonging to the transmissible spongiform encephalopathies. It is characterized by the deposition of the abnormal isoform of the prion protein (PrPsc), causing spongiform neurodegeneration. The disease is classically known to mainly affect the gray matter of the CNS. However, involvement of the peripheral nervous system (PNS) has been described.1–3 Herein, we describe a patient with genetic CJD, in whom the disease presentation was a demyelinating neuropathy reminiscent of chronic inflammatory demyelinating polyneuropathy (CIDP). Acknowledgment: This study is supported by a grant from the KU Leuven (GOA/11/014) and by the Interuniversity Attraction Poles (IUAP) program P7/16 of the Belgian Federal Science Policy Office. P.V.D. holds a senior clinical investigatorship from the Flemish Fund for Scientific Research (FWO-Vlaanderen) and is supported by the Belgian ALS league.