J Korean Neurol Assoc.  2021 Aug;39(3):210-213. 10.17340/jkna.2021.3.18.

Clinical Features of Genetic Creutzfeldt-Jakob Disease with E200K Mutation

Affiliations
  • 1Department of Neurology, Pusan National University Hospital, Busan, Korea
  • 2Department of Neurology, Pusan National University Yangsan Hospital, Yangsan, Korea
  • 3Department of Neurology, Pusan National University School of Medicine, Busan, Korea

Abstract

Although genetic Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative disorder, cases of genetic CJD with E200K mutation are being increasingly reported in Korea. However, the clinical features and course of genetic CJD with E200K mutation in Korea remain unclear. We describe the clinical features and course of genetic CJD with E200K mutation in a patient who initially presented with rapid progressive memory impairment and myoclonus.

Keyword

Familial Creutzfeldt-Jakob disease; Prion disease
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