Familial Creutzfeldt-Jakob Disease with V180I Mutation.
10.3346/jkms.2010.25.7.1097
- Author:
Tae Il YANG
1
;
Dae Soo JUNG
;
Bo Young AHN
;
Byung Hoon JEONG
;
Han Jeong CHO
;
Yong Sun KIM
;
Duk L NA
;
Michael D GESCHWIND
;
Eun Joo KIM
Author Information
1. Department of Neurology, Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute, Busan, Korea. eunjookim@pusan.ac.kr
- Publication Type:Case Report ; Research Support, Non-U.S. Gov't
- Keywords:
Creutzfeldt-Jakob Syndrome;
Prion Protein Gene;
Codon 180
- MeSH:
Aged;
Base Sequence;
Codon;
Creutzfeldt-Jakob Syndrome/*genetics/physiopathology;
DNA Mutational Analysis;
Female;
Humans;
Neuropsychological Tests;
*Point Mutation;
Prions/*genetics;
Republic of Korea
- From:Journal of Korean Medical Science
2010;25(7):1097-1100
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
