NR AFKQ

AU Hitoshi,S.; Nagura,H.; Yamanouchi,H.; Kitamoto,T.

TI Double mutations at codon 180 and codon 232 of the PRNP gene in an apparently sporadic case of Creutzfeldt-Jakob disease

QU Journal of the Neurological Sciences 1993 Dec 15; 120(2): 208-12

PT journal article

AB Several polymorphisms of the prion protein gene are associated with the occurrence of familial Creutzfeldt-Jakob disease. We described a 84-year-old Japanese man with neuropathologically verified Creutzfeldt-Jakob disease of apparently sporadic type. His clinical presentation was atypical in point of a very late age at onset and absence of periodic synchronous discharge on electroencephalography. The patient carried double hitherto undescribed mutations of the prion protein gene; at codon 180 on one allele and at codon 232 on another. The mutation at codon 180 abolishes the Tth111I cutting site, which may be misunderstood to represent codon 178 mutation on routine restriction fragment length polymorphism study.

MH Aged; Aged, 80 and over; Alleles; Base Sequence; Blotting, Western; Brain/pathology; Case Report; Codon; Creutzfeldt-Jakob Syndrome/*genetics/pathology/psychology; DNA/analysis/isolation & purification; Human; Leukocytes/chemistry; Magnetic Resonance Imaging; Male; Molecular Sequence Data; *Mutation; Prions/*genetics; Support, Non-U.S. Gov't

AD Department of Neurology, Tokyo Metropolitan Geriatric Medical Center, Japan.

SP englisch

PO Niederlande

EA pdf-Datei

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