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Identification of a PRNP gene mutation in Jakob's original Creutzfeldt-Jakob disease family

✍ Scribed by Paul Brown; Larisa Cervenáková; JanW. Boellaard; Dimitrios Stavrou; LevG. Goldfarb; D.Carleton Gajdusek


Book ID
118555250
Publisher
The Lancet
Year
1994
Tongue
English
Weight
323 KB
Volume
344
Category
Article
ISSN
0140-6736

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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