title: New haplotype of familial Creutzfeldt-Jakob disease with a codon 200 mutation and a codon 219 polymorphism of the prion protein gene in a Japanese family.
abstract: We report a new haplotype of familial Creutzfeldt-Jakob disease (CJD) with a codon 200 mutation and a codon 219 polymorphism of the prion protein gene in a Japanese family. There were four cases diagnosed with CJD neuropathologically, one of which was identified with a codon 200 mutation (glutamic acid to lysine) and a codon 219Lys polymorphism on the same allele. Clinicopathologically, two cases had a long clinical course, whereas the others were similar to the cases with a codon 200 mutation. Three cases was diagnosed with the panencephalopathic-type CJD neuropathologically and the other was diagnosed with the subacute spongiform encephalopathy, a subtype of CJD. We consider that the clinicopathological features in familial CJD are not steadily uniform and that it is impossible to state definitely from this study whether the codon 219 polymorphism influences the clinicopathological aspects in familial CJD with a codon 200 mutation (glutamic acid to lysine).
authors.affiliation: Department of Psychiatry, Shimane Medical University, Izumo, Japan. seno@shimane-med.ac.jp
authors.forename: H
authors.initials: H
authors.lastname: Seno
authors.forename: H
authors.initials: H
authors.lastname: Tashiro
authors.forename: H
authors.initials: H
authors.lastname: Ishino
authors.forename: T
authors.initials: T
authors.lastname: Inagaki
authors.forename: M
authors.initials: M
authors.lastname: Nagasaki
authors.forename: S
authors.initials: S
authors.lastname: Morikawa
mesh_terms: D000368:Aged; D001344:Autopsy; D001921:Brain / Q000473:pathology*; D003062:Codon; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000473:pathology; D005260:Female; D006239:Haplotypes; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016366:Open Reading Frames; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011328:Prions / Q000235:genetics*
chemical_list: D003062:Codon; D011328:Prions