Open AccessThe Priori Diseases
Author(s) -
Prusiner Stanley B.
Publication year - 1998
Publication title -
brain pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.986
H-Index - 132
eISSN - 1750-3639
pISSN - 1015-6305
DOI - 10.1111/j.1750-3639.1998.tb00171.x
Subject(s) - fatal familial insomnia , disease , prion protein , virology , nucleic acid , biology , gene , genetics , chromosome , medicine , pathology
The human prion diseases are fatal neurodegenerative maladies that may present as sporadic, genetic, or infectious illnesses. The sporadic form is called Creutzfeldt‐Jakob disease (CJD) while the inherited disorders are called familial (f) CJD, Gerstmann‐Sträussler‐Scheinker (GSS) disease and fatal familial insomnia (FFI). Prions are transmissible particles that are devoid of nucleic acid and seem to be composed exclusively of a modified protein (PrPSc).The normal, cellular PrP (PrPC) is converted into PrPSc through a posttranslational process during which it acquires a high β‐sheet content. In fCJD, GSS, and FFI, mutations in the PrP gene located on the short arm of chromosome 20 are the cause of disease. Considerable evidence argues that the prion diseases are disorders of protein conformation.