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Atypical presentation of Creutzfeldt–Jakob disease: The first Italian case associated with E196K mutation in the PRNP gene

✍ Scribed by F. Clerici; A. Elia; F. Girotti; P. Contri; C. Mariani; F. Tagliavini; G. Di Fede


Book ID
119302764
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
925 KB
Volume
275
Category
Article
ISSN
0022-510X

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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