title: [Familial Creutzfeldt-Jakob disease with the heterozygous point mutation at codon 200 of the prion protein gene (Glu-->Lys)--report of CJD200 brothers of Yamanashi Prefecture origin].
abstract: We report two brothers with familial Creutzfeldt Jakob disease (CJD) having a heterozygous point mutation at codon 200 of the prion protein gene (Glu-->Lys): CJD200. The brothers were born in Kitakoma-gun, Yamanashi Prefecture. Patient 1, a 62-year-old man, developed CJD in 1995 and died nine months later. Patient 2, his brother, developed CJD200 at the age of 58 in 1982 and died 13 months later. They both exhibited rapidly progressive dementia with myoclonus and periodic synchronous discharges on electroencephalograms and became bedridden with three or four months. DNA analysis of peripheral blood cells of patient I showed a point mutation in the prion protein gene at codon 200: GAG-->AAG (Glu-->Lys). Five families with CJD200, 11 patients, have been reported in Japan to date, and nine of the patients from four families were born in Yamanashi Prefecture and vicinity. Our patients were born in the same area. We suspect that there is a cluster of CJD200 in Yamanashi Prefecture and vicinity. In Europe and America the phenotype of CJD200 has been reported to be heterogeneous, whereas the clinical features in Japanese cases are fairly homogeneous. We suspect that these patients have a common ancestor with a codon 200 mutation, and that that explains why the phenotypes are homogeneous.
authors.affiliation: Department of Neurology, Yokohama City University Urafune Hospital, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Kawauchi
authors.forename: M
authors.initials: M
authors.lastname: Okada
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroiwa
authors.forename: O
authors.initials: O
authors.lastname: Ishihara
authors.forename: J
authors.initials: J
authors.lastname: Akai
mesh_terms: D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000378:metabolism; D005192:Family Health; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D011328:Prions / Q000235:genetics*
chemical_list: D011328:Prions