A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease
✍ Scribed by Dr. Maurizio Pocchiari; Mirella Salvatore; Francesca Cutruzzolá; Maurizio Genuardi; Carlo Travaglini Allocatelli; Carlo Masullo; Giorgio Macchi; Giovanni Alemá; Simona Galgani; You Geng Xi; Rosella Petraroli; Maria Chiara Silvestrini; Maurizio Brunori
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 605 KB
- Volume
- 34
- Category
- Article
- ISSN
- 0364-5134
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## Abstract We report two Creutzfeldt‐Jakob disease (CJD) patients with rhythmic pupillary and palpebral oscillation who had a mutation of prion protein codon 200 that resulted in the substitution of lysine for glutamate (Glu/Lys). Alternating dilation and constriction of the pupils combined with e
Inherited prion diseases are characterized by mutations in the PRNP gene encoding the prion protein (PrP). As the other sporadic or infectious prion disease forms, they are almost all characterized by the accumulation in the brain of an abnormal misfolded form of the patient's PrP. Brain extracts ca
Creutzfeldt-Jakob disease (CJD) belongs to a group of chronic, progressive, neurodegenerative disorders that may be hereditary, infectious, or sporadic. Hereditary CJDs are associated with mutations in the PRNP gene on chromosome 20p12-pter. We report a family in which four patients developed classi