NR AFUJ
AU Inoue,I.; Kitamoto,T.; Doh-ura,K.; Shii,H.; Goto,I.; Tateishi,J.
TI Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene
QU Neurology 1994 Feb; 44(2): 299-301
PT journal article
AB We report the first Japanese case of familial Creutzfeldt-Jakob disease (CJD) with the heterozygous point mutation at codon 200 of the prion protein gene. This suggests that the mutation is not race-specific. The clinical and pathologic features of this case are not different from those of sporadic CJD without point mutations. Some healthy members of the family also carry the same mutation in the autosomal dominant inheritance expression.
IN Auch in Japan gibt es die durch eine heterozygote Mutation im Codon 200 des Priongenes verursachte erbliche Creutzfeldt-Jakob-Krankheit. Auch dort gibt es gesunde Träger der dominanten Mutation. Die Autoren fanden keine klinischen oder pathologischen Unterschiede zwischen dieser erblichen Form und sporadisch aufgetretenen Fällen der Creutzfeldt-Jakob-Krankheit.
MH Adolescent; Adult; Case Report; Cerebellum/metabolism/pathology; Codon; Creutzfeldt-Jakob Syndrome/*genetics/pathology; DNA/blood; Deoxyribonucleases, Type II Site-Specific; Female; Human; Immunohistochemistry; Japan; Lymphocytes/metabolism; Lysine; Male; Middle Age; Pedigree; *Point Mutation; Polymerase Chain Reaction; PrPsc Proteins; Prions/analysis/*genetics; Support, Non-U.S. Gov't; Variation (Genetics)
AD Department of Neurology, Kokura-kinen Hospital, Kitakyusyu, Japan.
SP englisch
PO USA