Familial Creutzfeldt-Jakob Disease with V180I Mutation

• Published in: Journal of Korean medical science Vol. 25; no. 7; pp. 1097 - 1100
• Main Authors: Yang, Tae-Il, Jung, Dae-Soo, Ahn, Bo-Young, Jeong, Byung-Hoon, Cho, Han-Jeong, Kim, Yong-Sun, Geschwind, Michael D., Kim, Eun-Joo
• Format: Journal Article
• Language: English
• Published: Korea (South) The Korean Academy of Medical Sciences 01.07.2010; 대한의학회
• Subjects: Aged; Base Sequence; Case Report; Codon; Creutzfeldt-Jakob Syndrome - genetics; Creutzfeldt-Jakob Syndrome - physiopathology; DNA Mutational Analysis; Female; Humans; Neuropsychological Tests; Point Mutation; Prions - genetics; Republic of Korea; 의학일반; Republic of Korea; Prion Protein Gene; Creutzfeldt-Jakob Syndrome; Codon 180
• ISSN: 1011-8934; 1598-6357; 1598-6357
• DOI: 10.3346/jkms.2010.25.7.1097

Creutzfeldt-Jakob disease (CJD) is an uncommon neurodegenerative disorder with an incidence of 1 per 1000,000 per year typically characterized by rapidly progressive dementia, ataxia, myoclonus and behavioral changes. Genetic prion diseases, which develop due to a mutations in the prion protein gene (PRNP), account for an estimated 10 to 15% of all CJD cases. We report a 75-yr-old woman with familial CJD carrying a V180I mutation which features late onset, slow progression, no periodic sharp wave complexes on electroencephalography, and extensive cortical ribboning with spared the cerebellum and the medial occipital lobes posterior to the parieto-occipital sulcus on MRI. To our knowledge, this is the first documented case of a point mutation at codon 180 in South Korea.