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From the Service de Biochimie, Pr C. Dreux, and FRA C. Bernard "Neurochimie des Communications Cellulaires" (Drs. Ripoll, Laplanche, Chatelain, Beaudry, and Launay, and M. Dussaucy), Hôpital Saint-Louis, Paris; the Service de Neurologie (Dr. Salzmann), CHG Roanne; the Laboratoire d'Anatomie Pathologique (Dr. Jouvet), Hôpital Neurologique, Lyon; and the Service de Gerontologie Clinique, Dr Di Menza (Dr. Planques), Hôpital Emile Roux, Limeil-Brévannes, France.
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.
Address correspondence and reprint requests to Dr. J-L. Laplanche, FRA C. Bernard "Neurochimie des Communications Cellulaires," Hôpital Saint-Louis, 1 Av. C. Vellefaux, 75010 Paris, France.
Supported by Assistance Publique-Hôpitaux de Paris grant CIRC 1-911108 (J-L.L.).
Received November 23, 1992. Accepted for publication in final form February 17, 1993.
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