A NEW POINT MUTATION IN THE PRION PROTEIN GENE AT CODON 210 IN CREUTZFELDT-JAKOB-DISEASE

作者：RIPOLL L; LAPLANCHE JL; SALZMANN M; JOUVET A; PLANQUES B; DUSSAUCY M; CHATELAIN J; BEAUDRY P; LAUNAY JM

来源：Neurology, 1993, 43(10): 1934-1938.

We screened 16 cases of sporadic Creutzfeldt-Jakob disease (CJD) and 28 healthy control subjects to detect possible polymorphisms in their prion protein gene (PRNP). The molecular analysis of the PRNP coding sequence was performed using denaturing gradient gel electrophoresis of polymerase chain reaction products and direct sequencing. We identified (1) a silent mutation at codon 177 in a healthy individual, (2) a codon 200 glutamate-to-lysine substitution in a 48-year-old CJD-affected Libyan Jew, and (3) a G-to-A point substitution at codon 210, leading a valine-to-isoleucine change, in a 63-year-old French CJD patient. This new mutation occurs in a highly conserved part of the PRNP coding sequence, close to the known CJD-associated codon 200 mutation, and might be linked to a symptomatologic and neuropathologic pattern of typical sporadic CJD. This mutation was also present in a sister of the patient who died at the age of 67 without neurologic symptomatology.

• 出版日期1993-10