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Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment

✍ Scribed by Sigrun Roeber; Bjarne Krebs; Manuela Neumann; Otto Windl; Inga Zerr; Eva-Maria Grasbon-Frodl; Hans A. Kretzschmar


Publisher
Springer-Verlag
Year
2005
Tongue
English
Weight
362 KB
Volume
109
Category
Article
ISSN
0001-6322

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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