title: Familial Creutzfeldt-Jakob disease with a mutation at codon 180 presenting with an atypical phenotype.
abstract: The clinical features of familial Creutzfeldt-Jakob disease (fCJD) with a mutation at codon 180 (V180I) are less typical than those of patients with sporadic CJD. We describe a patient with pathologically confirmed CJD carrying the V180I mutation who had atypical cerebrospinal fluid and electroencephalography findings. Similar to other prion protein mutations, this report suggests that the V180I mutation is not the exclusive determinant of the phenotype.
authors.affiliation: Department of Neurology, School of Medicine, Kangwon National University, Hyoja 3-dong, Chuncheon, Kangwon-do 200-947, Republic of Korea.
authors.forename: Min-Ju
authors.initials: MJ
authors.lastname: Yeo
authors.forename: Seung-Hwan
authors.initials: SH
authors.lastname: Lee
authors.forename: Seo-Young
authors.initials: SY
authors.lastname: Lee
authors.forename: Yong-Chul
authors.initials: YC
authors.lastname: Jeon
authors.forename: Seok-Joo
authors.initials: SJ
authors.lastname: Park
authors.forename: Han-Jeong
authors.initials: HJ
authors.lastname: Cho
authors.forename: Kyoung-Chan
authors.initials: KC
authors.lastname: Choi
authors.forename: Yong-Sun
authors.initials: YS
authors.lastname: Kim
authors.forename: Sung-Hun
authors.initials: SH
authors.lastname: Kim
mesh_terms: D000368:Aged; D003062:Codon / Q000235:genetics*; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011328:Prions / Q000235:genetics*; D014633:Valine / Q000235:genetics
chemical_list: D003062:Codon; D011328:Prions; D014633:Valine