Publication Date

2011

School

College of Arts and Sciences

Major

Biology--Teacher Certification

Primary Subject Area

Biology, Neuroscience

Keywords

fatal familial insomnia, prion, spongiform, thalamus

Disciplines

Other Neuroscience and Neurobiology

Abstract

Fatal Familial Insomnia (FFI) is an insidious prion disorder that tends to manifest itself as a patient reaches middle age following a pattern consistent with autosomal dominance. A wide range of symptoms are represented, many related to motor function and autonomic regulation, but degeneration of certain areas of the thalamus is present in every case. Genetically, the condition is transmitted only within families, but it has been demonstrated by Jackson et al. (2009) that FFI can be transmitted by exposure to/ingestion of infected material. A number of groundbreaking studies are discussed. These include the initial documentation of FFI as a prion disorder by Medori et al. (1992), the identification of codon 129 on PRNP as a locus for prion disease susceptibility by Palmer et al. (1991), the discovery that the aberrant isoform PrPsc requires the normal PrP protein in order to produce infectivity by Mallucci et al. (2003), and others. There are no effective treatments for FFI as of yet; scientists are still searching for all the pieces to the puzzle.