Familial Creutzfeldt-Jakob disease with V180I mutation.
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.
Yang
Tae-Il
TI
Department of Neurology, Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute, Busan, Korea.
Jung
Dae-Soo
DS
Ahn
Bo-Young
BY
Jeong
Byung-Hoon
BH
Cho
Han-Jeong
HJ
Kim
Yong-Sun
YS
Na
Duk L
DL
Geschwind
Michael D
MD
Kim
Eun-Joo
EJ
D000368:Aged; D001483:Base Sequence; D003062:Codon; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D009483:Neuropsychological Tests; D017354:Point Mutation; D011328:Prions / Q000235:genetics*; D056910:Republic of Korea
D003062:Codon; D011328:Prions