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
✦ LIBER ✦
Phenotypic characteristics of familial Creutzfeldt-Jakob disease assoicated with the codon 178AsnPRNP mutation
✍ Scribed by Dr Paul Brown; Lev G. Goldfarb; Jussi Kovanen; Mattie Haltia; Françoise Cathala; Michael Sulima; C. J. Gibbs Jr; D. Carleton Gajdusek
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 438 KB
- Volume
- 31
- Category
- Article
- ISSN
- 0364-5134
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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