Novel mutation of the PRNP gene of a clinical CJD case

BMC Infectious Diseases

Volumn 6, Issue , 2006, Pages

  Kotta, Konstantia ^a   Paspaltsis, Ioannis ^a   Bostantjopoulou, Sevasti ^b   Latsoudis, Helen ^c   Plaitakis, Andreas ^c   Kazis, Dimitrios ^b   Collinge, John ^d   Sklaviadis, Theodoros ^a  

^a ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^b Department of Hematology and Bone Marrow Transplantation   (Greece)

^c UNIVERSITY OF CRETE   (Greece)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ISOLEUCINE; NEUROLEPTIC AGENT; PRION PROTEIN; PROTEIN 14 3 3; THREONINE;

AGED; AKINETIC MUTISM; ALLELE; AMNESIA; ARTICLE; BABINSKI REFLEX; BEHAVIOR DISORDER; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CODON; CONFUSION; CREUTZFELDT JAKOB DISEASE; DEATH; DELUSION; DISEASE COURSE; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; FEMALE; GAIT DISORDER; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HOMOZYGOSITY; HOSPITAL ADMISSION; HUMAN; INCONTINENCE; MYOCLONUS; NUCLEOTIDE SEQUENCE; SYMPTOM; VISUAL HALLUCINATION;

14-3-3 PROTEINS; AGED; CREUTZFELDT-JAKOB SYNDROME; FEMALE; HUMANS; MUTATION; PRIONS; SEQUENCE ANALYSIS, DNA;

EID: 33845668962     PISSN: None     EISSN: 14712334     Source Type: Journal    
DOI: 10.1186/1471-2334-6-169     Document Type: Article

References (22)

1. Prusiner SB: Novel proteinaceous infectious particles cause scrapie. Science 1982, 216(4542):136-144.
2. Bueler H, Aguzzi A, Sailer A, Greiner RA, Autenried P, Aguet M, Weissmann C: Mice devoid of PrP are resistant to scrapie. Cell 1993, 73(7):1339-1347.
3. Parchi P, Zou W, Wang W, Brown P, Capellari S, Ghetti B, Kopp N, Schulz-Schaeffer WJ, Kretzschmar HA, Head MW, Ironside JW, Gambetti P, Chen SG: Genetic influence on the structural variations of the abnormal prion protein. Proc Natl Acad Sci U S A 2000, 97(18):10168-10172.
4. Peoc'h K, Guerin C, Brandel JP, Launay JM, Laplanche JL: First report of polymorphisms in the prion-like protein gene (PRND): implications for human prion diseases. Neurosci Lett 2000, 286(2):144-148.
5. Tranchant C, Geranton L, Guiraud-Chaumeil C, Mohr M, Warter JM: Basis of phenotypic variability in sporadic Creutzfeldt-Jakob disease. Neurology 1999, 52(6):1244-1249.
6. Brandel JP: Clinical aspects of human spongiform encephalopathies, with the exception of iatrogenic forms. Biomed Pharmacother 1999, 53(1):14-18.
7. Prusiner SB, Telling G, Cohen FE, DeArmond SJ: Prion diseases of humans and animals. Seminars in Virology 1996, 7(15):159-173.
8. Prusiner SB, Scott MR: Genetics of prions. Annu Rev Genet 1997, 31:139-175.
9. Kovacs GG, Puopolo M, Ladogana A, Pocchiari M, Budka H, van Duijn C, Collins SJ, Boyd A, Giulivi A, Coulthart M, Delasnerie-Laupretre N, Brandel JP, Zerr I, Kretzschmar HA, de Pedro-Cuesta J, Calero-Lara M, Glatzel M, Aguzzi A, Bishop M, Knight R, Belay G, Will R, Mitrova E: Genetic prion disease: the EUROCJD experience. Hum Genet 2005, 118(2):166-174.
10. Kovacs GG, Trabattoni G, Hainfellner JA, Ironside JW, Knight RS, Budka H: Mutations of the prion protein gene phenotypic spectrum. J Neurol 2002, 249(11):1567-1582.
11. Ladogana A, Puopolo M, Poleggi A, Almonti S, Mellina V, Equestre M, Pocchiari M: High incidence of genetic human transmissible spongiform encephalopathies in Italy. Neurology 2005, 64(9):1592-1597.
12. Wiltfang J, Otto M, Baxter HC, Bodemer M, Steinacker P, Bahn E, Zerr I, Kornhuber J, Kretzschmar HA, Poser S, Ruther E, Aitken A: Isoform pattern of 14-3-3 proteins in the cerebrospinal fluid of patients with Creutzfeldt-Jakob disease. J Neurochem 1999, 73(6):2485-2490.
13. WHO: Global surveillance, diagnosis and therapy of human transmissible spongiform encephalopathies: report of a WHO consultation. 1998.
14. Zerr I, Pocchiari M, Collins S, Brandel JP, de Pedro Cuesta J, Knight RS, Bernheimer H, Cardone F, Delasnerie-Laupretre N, Cuadrado Corrales N, Ladogana A, Bodemer M, Fletcher A, Awan T, Ruiz Bremon A, Budka H, Laplanche JL, Will RG, Poser S: Analysis of EEG and CSF 14-3-3 proteins as aids to the diagnosis of Creutzfeldt-Jakob disease. Neurology 2000, 55(6):811-815.
15. Sanchez-Valle R, Nos C, Yague J, Graus F, Dominguez A, Saiz A: Clinical and genetic features of human prion diseases in Catalonia: 1993-2002. Eur J Neurol 2004, 11(10):649-655.
16. Palmer MS, Dryden AJ, Hughes JT, Collinge J: Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature 1991, 352(6333):340-342.
17. Plaitakis A, Viskadouraki AK, Tzagournissakis M, Zaganas I, Verghese-Nikolakaki S, Karagiorgis V, Panagiotides I, Kilindireas C, Patsouris E, Haberler C, Budka H, Sklaviadis T: Increased incidence of sporadic Creutzfeldt-Jakob disease on the island of Crete associated with a high rate of PRNP 129-methionine homozygosity in the local population. Ann Neurol 2001, 50(2):227-233.
18. Saetta AA, Michalopoulos NV, Malamis G, Papanastasiou PI, Mazmanian N, Karlou M, Kouzoupis A, Korkolopoulou P, Patsouris E: Analysis of PRNP gene codon 129 polymorphism in the Greek population. Eur J Epidemiol 2006, 21(3):211-215.
19. van Rheede T, Smolenaars MM, Madsen O, de Jong WW: Molecular evolution of the mammalian prion protein. Mol Biol Evol 2003, 20(1):111-121.
20. Zahn R, Liu A, Luhrs T, Riek R, von Schroetter C, Lopez Garcia F, Billeter M, Calzolai L, Wider G, Wuthrich K: NMR solution structure of the human prion protein. Proc Natl Acad Sci U S A 2000, 97(1):145-150.
21. Collins S, Boyd A, Fletcher A, Byron K, Harper C, McLean CA, Masters CL: Novel prion protein gene mutation in an octogenarian with Creutzfeldt-Jakob disease. Arch Neurol 2000, 57(7):1058-1063.
22. Peoc'h K, Manivet P, Beaudry P, Attane F, Besson G, Hannequin D, Delasnerie-Laupretre N, Laplanche JL: Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype. Hum Mutat 2000, 15(5):482.