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KMID : 0359720210390030210
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Journal of the Korean Neurological Association
2021 Volume.39 No. 3 p.210 ~ p.213
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Clinical Features of Genetic Creutzfeldt-Jakob Disease with E200K Mutation
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Kim Ji-Young
Lee Gha-Hyun
Cho Jae-Wook
Kim Hyun-Woo
Jung Dae-Soo
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Abstract
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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.
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KEYWORD
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Familial Creutzfeldt-Jakob disease, Prion disease
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