prion-cases-examined-by-prion-center Table of Cases Examined

Resources - References

References of recent studies based on cases collected by the Center:

Human Prion Diseases

  1. Moda F, Gambetti P, Notari S, Concha-Marambio L, Catania M, Park KW, Maderna E, Suardi S, Haïk S, Brandel JP, Ironside J, Knight R, Tagliavini F, Soto C. Prions in the urine of patients with variant Creutzfeldt-Jakob disease. NEJM. 2014 Aug 7;371(6):530-9.

  2. Parchi P, de Boni L, Saverioni D, Cohen ML, Ferrer I, Gambetti P, Gelpi E, Giaccone G, Hauw JJ, Höftberger R, Ironside JW, Jansen C, Kovacs GG, Rosemuller A, Seilhean D, Tagliavini F, Giese A, Kretchmar HA. Consensus classification of human prion disease histotypes allows reliable identification of molecular subtypes: an inter-rater study study among surveillance centers in Europe and USA. Acta Neuropathologica. 124(4):517-29. Oct 2012.

  3. Puoti P, Bizzi A, Forloni G, Safar JG, Tagliavini F, Gambetti P. Sporadic human prion disease: molecular insights and diagnosis. Lancet Neurology 11(7):618-28. Jul 2012.

  4. Castellani RJ, Colucci M, :Xie Z, Zou W, Li C, Parchi P, Capellari S, Pastore M, Rahbar MH, Chen SG, Gambetti P. Sensitivity of 14-3-3 Protein Test Varies in Subtypes of Sporadic Creutzfeldt-Jakob Disease. Neurology. 63(3): 436-42.

  5. Kong Q, Goldfarb L, Gabizon R, Montagna P, Lugaresi E, Piccardo P, Petersen RB, Parchi P, Chen SG, Capellari S, Ghetti B. Inherited Prion Diseases. In Prion Biology and Diseases. Cold Springs Harbor Laboratory Press. 2004.

  6. Gambetti P, Kong Q, Zou W, Parchi P, Chen SG. Sporadic and Familial CJD: Classification and Characterisation. British Medical Bulletin. 66: 213-239. 2003.

  7. Parchi P, Giese A, Capellari S, Brown P, Schulz-Schaeffer W, Windl O, Zerr I, Budka H, Kopp N, Piccardo P, Poser S, Rojiani A, Streichemberger N, Julien J, Vital C, Ghetti B, Gambetti P, Kretzschmar H. Classification of Sporadic Creutzfeldt-Jakob Disease Based on Molecular and Phenotypic Analysis of 300 Subjects. Annals of Neurology. 46: 224- 233, 1999.

Research References

  1. Foutz A, Appleby BS, Hamlin C, Liu X, Yang S, Cohen Y, Chen W, Blevins J, Fausett C, Wang H, Gambetti P, Zhang S, Hughson A, Tatsuoka C, Schonberger LB, Cohen M, Caughey B, Safar JG. Diagnostic and prognostic value of human prion detection in cerebrospinal fluid. Annals of Neurology. 81(1):79-92. Jan 2017

  2. Prusiner SB, Biology and genetics of prions causing neurodegeneration. Annu Rev Genet. 2013;47:601-23.

  3. McGuire LI, Peden AH, Orrú CD, Wilham JM, Appleford NE, Mallinson G, Andrews M, Head MW, Caughey B, Will RG, Knight RS, Green AJ. Real time quaking-induced conversion analysis of cerebrospinal fluid in sporadic Creutzfeldt-Jakob disease. Annals of Neurology. 72(2):278-85. Aug 2012

  4. Hamlin C, Puoti G, Berri S, Sting E, Harris C, Cohen M, Spear C, Bizzi A, Debanne SM, Rowland DY. A comparison of tau and 14-3-3 protein in the diagnosis of Creutzfeldt-Jakob disease. Neurology. 79(6):547-52. Aug 2012.

  5. Brown P, Brandel JP, Sato T, Nakamura Y, MacKenzie J, Will RG, Ladogana A, Pocchiari M, Leschek EW, Schonberger LB. Iatrogenic Creutzfeldt-Jacob disease, final assessment. Emerging Infectious Diseases. 18(6):901-7. June 2012.

  6. Surewicz WK, Apostol MI. Prion protein and its conformation conversion: a structural perspective. Topics in Current Chemistry. 305:135—67. 2011.

  7. Atarashi R, Satoh K, Sano K, Fuse T, Yamaguchi N, Ishibashi D, Matsubara T, Nakagaki T, Yamanaka H, Shirabe S, Yamada M, Mizusawa H, Kitamoto T, Klug G, McGlade A, Collins SJ, Nishida N. Ultrasensitive human prion detection in cerebrospinal fluid by real-time quaking-induced conversion. Nat Med. 2011 Feb;17(2):175-8.

  8. Kovács GG, Puopolo M, Ldogana A, Pocchiari M, Budka H, van Duijn C, Collins SJ, Boyd A, Giulivi A, Coulthart, Delasnerie-Laupretre N, Brandel JP, Zerr I, Kretzschmar HA, de Pedro-Cuesta J, Calero-Lara M, Glatzen M, Aguzzi A, Bishop M, Knight R, Belay G, Will R, Mitrova E. Genetic prion disease: the EUROCJD experience. Human Genetics. 118(2):166-74. Nov 2005.