The first case of fatal familial insomnia (ffi) in the netherlands: A patient from egyptian descent with concurrent four repeat tau deposits

Neuropathology and Applied Neurobiology

Volumn 37, Issue 5, 2011, Pages 549-553

  Jansen, C ^a   Parchi, P ^d   Jelles, B ^b   Gouw, A A ^c   Beunders, G ^c   van Spaendonk, R M L ^c   van de Kamp, J M ^c   Lemstra, A W ^c   Capellari, S ^d   Rozemuller, A J M ^a,c  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b Gelre Ziekenhuizen ^*  (Netherlands)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PRION PROTEIN; TAU PROTEIN;

ADULT; AMNESIA; ANAMNESIS; AUTOPSY; CASE REPORT; CLINICAL FEATURE; DIPLOPIA; FATAL FAMILIAL INSOMNIA; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LETTER; MALE; NETHERLANDS; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL;

AFRICAN CONTINENTAL ANCESTRY GROUP; BLOTTING, WESTERN; BRAIN; EGYPT; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; INSOMNIA, FATAL FAMILIAL; MALE; MIDDLE AGED; NETHERLANDS; PEDIGREE; POINT MUTATION; PRIONS;

EID: 79960230036     PISSN: 03051846     EISSN: 13652990     Source Type: Journal    
DOI: 10.1111/j.1365-2990.2010.01126.x     Document Type: Letter

References (19)

1. Prusiner SB. Prions. Proc Natl Acad Sci U S A 1998; 95: 13363-83.
2. Bolton DC, McKinley MP, Prusiner SB. Identification of a protein that purifies with the scrapie prion. Science 1982; 218: 1309-11.
3. Pan KM, Baldwin M, Nguyen J, Gasset M, Serban A, Groth D, Mehlhorn I, Huang Z, Fletterick RJ, Cohen FE. Conversion of alpha-helices into beta-sheets features in the formation of the scrapie prion proteins. Proc Natl Acad Sci U S A 1993; 90: 10962-6.
4. Medori R, Tritschler HJ, LeBlanc A, Villare F, Manetto V, Chen HY, Xue R, Leal S, Montagna P, Cortelli P. Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene. N Engl J Med 1992; 326: 444-9.
5. Goldfarb LG, Petersen RB, Tabaton M, Brown P, LeBlanc AC, Montagna P, Cortelli P, Julien J, Vital C, Pendelbury WW. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Science 1992; 258: 806-8.
6. Harder A, Gregor A, Wirth T, Kreuz F, Schulz-Schaeffer WJ, Windl O, Plotkin M, Amthauer H, Neukirch K, Kretzschmar HA, Kuhlmann T, Braas R, Hahne HH, Jendroska K. Early age of onset in fatal familial insomnia. Two novel cases and review of the literature. J Neurol 2004; 251: 715-24.
7. Montagna P, Gambetti P, Cortelli P, Lugaresi E. Familial and sporadic fatal insomnia. Lancet Neurol 2003; 2: 167-76.
8. Parchi P, Petersen RB, Chen SG, Utilio-Gambetti L, Capellari S, Monari L, Cortelli P, Montagna P, Lugaresi E, Gambetti P. Molecular pathology of fatal familial insomnia. Brain Pathol 1998; 8: 539-48.
9. Parchi P, Notari S, Weber P, Schimmel H, Budka H, Ferrer I, Haik S, Hauw JJ, Head MW, Ironside JW, Limido L, Rodriguez A, Strobel T, Tagliavini F, Kretzschmar HA. Inter-laboratory assessment of PrPSc typing in creutzfeldt-jakob disease: a Western blot study within the NeuroPrion Consortium. Brain Pathol 2009; 19: 384-91.
10. 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. Ann Neurol 1999; 46: 224-33.
11. Braak H, Alafuzoff I, Arzberger T, Kretzschmar H, Del TK. Staging of Alzheimer disease-associated neurofibrillary pathology using paraffin sections and immunocytochemistry. Acta Neuropathol 2006; 112: 389-404.
12. Parchi P, Castellani R, Cortelli P, Montagna P, Chen SG, Petersen RB, Manetto V, Vnencak-Jones CL, McLean MJ, Sheller JR. Regional distribution of protease-resistant prion protein in fatal familial insomnia. Ann Neurol 1995; 38: 21-9.
13. Lugaresi E, Medori R, Montagna P, Baruzzi A, Cortelli P, Lugaresi A, Tinuper P, Zucconi M, Gambetti P. Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei. N Engl J Med 1986; 315: 997-1003.
14. Spacey SD, Pastore M, McGillivray B, Fleming J, Gambetti P, Feldman H. Fatal familial insomnia: the first account in a family of Chinese descent. Arch Neurol 2004; 61: 122-5.
15. Baldin E, Capellari S, Provini F, Corrado P, Liguori R, Parchi P, Montagna P, Cortelli P. A case of fatal familial insomnia in Africa. J Neurol 2009; 256: 1778-9.
16. Rodriguez-Martinez AB, Fonso-Sanchez MA, Pena JA, Sanchez-Valle R, Zerr I, Capellari S, Calero M, Zarranz JJ, de Pancorbo MM. Molecular evidence of founder effects of fatal familial insomnia through SNP haplotypes around the D178N mutation. Neurogenetics 2008; 9: 109-18.
17. Giaccone G, Mangieri M, Capobianco R, Limido L, Hauw JJ, Haik S, Fociani P, Bugiani O, Tagliavini F. Tauopathy in human and experimental variant Creutzfeldt-Jakob disease. Neurobiol Aging 2008; 29: 1864-73.
18. Reiniger L, Lukic A, Linehan J, Rudge P, Collinge J, Mead S, Brandner S. Tau, prions and Abeta: the triad of neurodegeneration. Acta Neuropathol 2010 (Epub ahead of print).
19. Kovacs GG, Seguin J, Quadrio I, Hoftberger R, Kapas I, Streichenberger N, Biacabe AG, Meyronet D, Sciot R, Vandenberghe R, Majtenyi K, Laszlo L, Strobel T, Budka H, Perret-Liaudet A. Genetic Creutzfeldt-Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy. Acta Neuropathol 2010 (Epub ahead of print).