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Diagnosis of Prion Disease: Conventional Approaches

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Prions and Diseases

Abstract

Prion diseases are characterized by the deposition of PrPSc, an abnormal form of the normal cellular protein, PrPc in the brain. The unique nature of human prion diseases includes their pathogenesis, mode of transmission and neuropathology. In humans, a long incubation time, rapid and dramatic evolution of the disease course and always a lethal outcome are key features of the clinical syndrome. The clinical diagnosis in sCJD is supported by detection of periodic sharp and slow wave complexes (PSWCs) in the electroencephalogram, 14-3-3 proteins in the cerebrospinal fluid (CSF) and hyperintense signal changes in the basal ganglia, thalamus and cortical areas on magnetic resonance imaging (MRI). These three tests became part of the clinical diagnostic criteria for probable CJD. The sensitivity of diagnostic tests varies across molecular CJD subtypes. Alzheimer’s disease and Lewy body dementia are the most frequent differential diagnoses in elderly patients, while chronic inflammatory CNS disorders have to be considered in younger patients.

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References

  • Aksamit AJ Jr, Preissner CM, Homburger HA (2001) Quantitation of 14-3-3 and neuron-specific enolase proteins in CSF in Creutzfeldt-Jakob disease. Neurology 57:728–30

    Article  PubMed  Google Scholar 

  • Alberti C, Gonzalez J, Maldonado H, Medina F, Barriga A, Garcia L, Kettlun A, Collados L, Puente J, Cartier L, Valenzuela M (2009) Comparative study of CSF neurofilaments in HTLV-1-associated myelopathy/tropical spastic paraparesis and other neurological disorders. AIDS Res Hum Retroviruses 25:803–9

    Article  PubMed  CAS  Google Scholar 

  • Albrecht D, Garcia L, Cartier L, Kettlun AM, Vergara C, Collados L, Valenzuela MA (2006) Trophic factors in cerebrospinal fluid and spinal cord of patients with tropical spastic paraparesis, HIV, and Creutzfeldt-Jakob disease. AIDS Res Hum Retroviruses 22:248–54

    Article  PubMed  CAS  Google Scholar 

  • Arruda WO, Bordignon KC, Milano JB, Ramina R (2004) Creutzfeldt-Jakob disease, Heidenhain variant: case report with MRI (DWI) findings. Arq Neuropsiquiatr 62:347–52

    Article  PubMed  Google Scholar 

  • Beaudry P, Cohen P, Brandel JP, Delasnerie-Laupretre N, Richard S, Launay JM, Laplanche JL (1999) 14-3-3 protein, neuron-specific enolase, and S-100 protein in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease. Dement Geriatr Cogn Disord 10:40–6

    Article  PubMed  CAS  Google Scholar 

  • Cartier L, Garcia L, Kettlun AM, Castaneda P, Collados L, Vasquez F, Giraudon P, Belin MF, Valenzuela MA (2004) Extracellular matrix protein expression in cerebrospinal fluid from patients with tropical spastic paraparesis associated with HTLV-I and Creutzfeldt-Jakob disease. Scand J Clin Lab Invest 64:101–7

    Article  PubMed  CAS  Google Scholar 

  • Castellani RJ, Colucci M, Xie Z, Zou W, Li C, Parchi P, Capellari S, Pastore M, Rahbar MH, Chen SG, Gambetti P (2004) Sensitivity of 14-3-3 protein test varies in subtypes of sporadic Creutzfeldt-Jakob disease. Neurology 63:436–42

    Article  PubMed  CAS  Google Scholar 

  • Chitravas N, Jung RS, Kofskey DM, Blevins JE, Gambetti P, Leigh RJ, Cohen ML (2011) Treatable neurological disorders misdiagnosed as Creutzfeldt-Jakob disease. Ann Neurol 70:437–44

    Article  PubMed  Google Scholar 

  • Choe LH, Green A, Knight RS, Thompson EJ, Lee KH (2002) Apolipoprotein E and other cerebrospinal fluid proteins differentiate ante mortem variant Creutzfeldt-Jakob disease from ante mortem sporadic Creutzfeldt-Jakob disease. Electrophoresis 23:2242–6

    Article  PubMed  CAS  Google Scholar 

  • Choi BY, Kim SY, Seo SY, An SS, Kim S, Park SE, Lee SH, Choi YJ, Kim SJ, Kim CK, Park JS, Ju YR (2009) Mutations at codons 178, 200–129, and 232 contributed to the inherited prion diseases in Korean patients. BMC Infect Dis 9:132

    Article  PubMed  Google Scholar 

  • Cohen OS, Chapman J, Lee H, Nitsan Z, Appel S, Hoffman C, Rosenmann H, Korczyn AD, Prohovnik I (2011) Pruritus in familial Creutzfeldt-Jakob disease: a common symptom associated with central nervous system pathology. J Neurol 258:89–95

    Article  PubMed  Google Scholar 

  • Collie DA, Summers DM, Sellar RJ, Ironside JW, Cooper S, Zeidler M, Knight R, Will R (2003) Diagnosing variant Creutzfeldt-Jakob disease with the pulvinar sign: MR imaging findings in 86 neuropathologically confirmed cases. Am J Neuroradiol 24:1560–9

    PubMed  Google Scholar 

  • Collins SJ, Sanchez-Juan P, Masters CL, Klug GM, van Duijn C, Poleggi A, Pocchiari M, Almonti S, Cuadrado-Corrales N, de Pedro-Cuesta J, Budka H, Gelpi E, Glatzel M, Tolnay M, Hewer E, Zerr I, Heinemann U, Kretzschmar HA, Jansen GH, Olsen E, Mitrova E, Alpérovitsch A, Brandel JP, Mackenzie J, Murray K, Will RG (2006) Determinants of diagnostic investigation sensitivities across the clinical spectrum of sporadic Creutzfeldt-Jakob disease. Brain 129:2278–87

    Article  PubMed  CAS  Google Scholar 

  • Demaerel P, Heiner L, Robberecht W, Sciot R, Wilms G (1999) Diffusion-weighted MRI in sporadic Creutzfeldt-Jakob disease. Neurology 52:205–8

    Article  PubMed  CAS  Google Scholar 

  • Edler J, Mollenhauer B, Heinemann U, Varges D, Werner C, Zerr I, Schulz-Schaeffer WJ (2009) Movement disturbances in the differential diagnosis of Creutzfeldt-Jakob disease. Mov Disord 24:350–6

    Article  PubMed  Google Scholar 

  • Farbu E, Tysnes OB, Mork S, Krossnes BK, Bindoff LA (2007) Two Norwegian sisters with late onset Creutzfeldt-Jakob disease caused by the E200K mutation. J Neurol 254:262–3

    Article  PubMed  Google Scholar 

  • Finkenstaedt M, Szudra A, Zerr I, Poser S, Hise JH, Stoebner JM, Weber T (1996) MR imaging of Creutzfeldt-Jakob disease. Radiology 199:793–8

    PubMed  CAS  Google Scholar 

  • Fulbright RK, Kingsley PB, Guo X, Hoffmann C, Kahana E, Chapman JC, Prohovnik I (2006) The imaging appearance of Creutzfeldt-Jakob disease caused by the E200K mutation. Magn Reson Imaging 24:1121–9

    Article  PubMed  CAS  Google Scholar 

  • Fulbright RK, Hoffmann C, Lee H, Pozamantir A, Chapman J, Prohovnik I (2008) MR imaging of familial Creutzfeldt-Jakob disease: a blinded and controlled study. AJNR Am J Neuroradiol 29:1638–43

    Article  PubMed  CAS  Google Scholar 

  • Furukawa H, Kitamoto T, Hashiguchi H, Tateishi J (1996) A Japanese case of Creutzfeldt-Jakob disease with a point mutation in the prion protein gene at codon 210. J Neurol Sci 141:120–2

    Article  PubMed  CAS  Google Scholar 

  • Gaig C, Valldeoriola F, Gelpi E, Ezquerra M, Llufriu S, Buongiorno M, Rey MJ, Marti MJ, Graus F, Tolosa E (2011) Rapidly progressive diffuse Lewy body disease. Mov Disord 26:1316–23

    Article  PubMed  Google Scholar 

  • Gawinecka J, Ciesielczyk B, Sanchez-Juan P, Schmitz M, Heinemann U, Zerr I (2012) Desmoplakin as a potential candidate for cerebrospinal fluid marker to rule out 14-3-3 false positive rates in sporadic Creutzfeldt–Jakob disease differential diagnosis. Neurodegener Dis 9:139–44

    Article  PubMed  Google Scholar 

  • Ghoshal N, Cali I, Perrin RJ, Josephson SA, Sun N, Gambetti P, Morris JC (2009) Codistribution of amyloid beta plaques and spongiform degeneration in familial Creutzfeldt-Jakob disease with the E200K-129 M haplotype. Arch Neurol 66:1240–6

    Article  PubMed  Google Scholar 

  • Gmitterová K, Heinemann U, Bodemer M, Krasnianski A, Meissner B, Kretzschmar HA, Zerr I (2009) 14-3-3 CSF levels in sporadic Creutzfeldt-Jakob disease differ across molecular subtypes. Neurobiol Aging 30(11):1842–50

    Article  PubMed  Google Scholar 

  • Green AJ, Ramljak S, Muller WE, Knight RS, Schroder HC (2002) 14-3-3 in the cerebrospinal fluid of patients with variant and sporadic Creutzfeldt-Jakob disease measured using capture assay able to detect low levels of 14-3-3 protein. Neurosci Lett 324:57–60

    Article  PubMed  CAS  Google Scholar 

  • Green A, Sanchez-Juan P, Ladogana A, Cuadrado-Corrales N, Sanchez-Valle R, Mitrova E, Stoeck K, Sklaviadis T, Kulczycki J, Heinemann U, Hess K, Slivarichova D, Saiz A, Calero M, Mellina V, Knight R, van Dujin CM, Zerr I (2007) CSF analysis in patients with sporadic CJD and other transmissible spongiform encephalopathies. Eur J Neurol 14:121–4

    Article  PubMed  CAS  Google Scholar 

  • Guillaume E, Zimmermann C, Burkhard PR, Hochstrasser DF, Sanchez JC (2003) A potential cerebrospinal fluid and plasmatic marker for the diagnosis of Creutzfeldt-Jakob disease. Proteomics 3:1495–9

    Article  PubMed  CAS  Google Scholar 

  • Harrington MG, Merril CR, Asher DM, Gajdusek DC (1986) Abnormal proteins in the cerebrospinal fluid of patients with Creutzfeldt-Jakob disease. N Engl J Med 315:279–83

    Article  PubMed  CAS  Google Scholar 

  • Heinemann U, Krasnianski A, Meissner B, Gloeckner SF, Kretzschmar HA, Zerr I (2007a) Molecular subtype-specific clinical diagnosis of prion diseases. Vet Microbiol 123:328–35

    Article  PubMed  CAS  Google Scholar 

  • Heinemann U, Krasnianski A, Meissner B, Varges D, Kallenberg K, Schulz-Schaeffer WJ, Steinhoff BJ, Grasbon-Frodl EM, Kretzschmar HA, Zerr I (2007b) Creutzfeldt-Jakob disease in Germany: a prospective 12-year surveillance. Brain 130:1350–9

    Article  PubMed  CAS  Google Scholar 

  • Holsinger RM, Lee JS, Boyd A, Masters CL, Collins SJ (2006) CSF BACE1 activity is increased in CJD and Alzheimer disease versus [corrected] other dementias. Neurology 67:710–2

    Article  PubMed  CAS  Google Scholar 

  • Hsich G, Kenney K, Gibbs CJ Jr, Lee KH, Harrington MG (1996) The 14-3-3 brain protein in cerebrospinal fluid as a marker for transmissible spongifrom encephalopathies. N Engl J Med 335:924–30

    Article  PubMed  CAS  Google Scholar 

  • Jesse S, Steinacker P, Cepek L, von Arnim CA, Tumani H, Lehnert S, Kretzschmar HA, Baier M, Otto M (2009) Glial fibrillary acidic protein and protein S-100B: different concentration pattern of glial proteins in cerebrospinal fluid of patients with Alzheimer’s disease and Creutzfeldt-Jakob disease. J Alzheimers Dis 17:541–51

    PubMed  CAS  Google Scholar 

  • Josephs KA, Ahlskog JE, Parisi JE, Boeve BF, Crum BA, Giannini C, Petersen RC (2009) Rapidly progressive neurodegenerative dementias. Arch Neurol 66:201–7

    Article  PubMed  Google Scholar 

  • Kelley BJ, Boeve BF, Josephs KA (2008) Young-onset dementia: demographic and etiologic characteristics of 235 patients. Arch Neurol 65:1502–8

    Article  PubMed  Google Scholar 

  • Kettlun A, Collados L, Garcia L, Cartier LA, Wolf ME, Mosnaim AD, Valenzuela MA (2003) Matrix metalloproteinase profile in patients with Creuztfeldt-Jakob disease. Int J Clin Pract 57:475–8

    PubMed  CAS  Google Scholar 

  • Korczyn AD (1991) Creutzfeldt-Jakob disease among Libyan Jews. Eur J Epidemiol 7:490–3

    Article  PubMed  CAS  Google Scholar 

  • Kovacs GG, Puopolo M, Ladogana A, Pocchiari M, Budka H, Van Duijn C, Collins S, Boyd A, Guilivi A, Coulthart M, Delasnerie-Laupretre N, Brandel JP, Zerr I, Kretzschmar H, de Pedro-Cuesta J, Calero-Lara M, Glatzel M, Aguzzi A, Bishop M, Knight R, Belay G, Will R, Mitrova E (2005) Genetic prion disease: the EUROCJD experience. Hum Genet 118:166–74

    Article  PubMed  CAS  Google Scholar 

  • Krammer C, Vorberg I, Schätzl HM, Gilch S (2009) Therapy in prion diseases: from molecular and cellular biology to therapeutic targets. Infect Disord Drug Targets 9:3–14

    PubMed  CAS  Google Scholar 

  • Krasnianski A, Schulz-Schaeffer WJ, Kallenberg K, Meissner B, Collie DA, Roeber S, Bartl M, Heinemann U, Varges D, Kretzschmar HA, Zerr I (2006) Clinical findings and diagnostic tests in the MV-2 subtype of sporadic CJD. Brain 129:2288–96

    Article  PubMed  Google Scholar 

  • Ladogana A, Puopolo M, Croes EA, Budka H, Jarius C, Collins S, Klug GM, Sutcliffe T, Giulivi A, Alperovitch A, Delasnerie-Laupretre N, Brandel J-P, Poser S, Kretzschmar H, Rietveld I, Mitrova E, de Pedro-Cuesta J, Martinez-Martin P, Glatzel M, Aguzzi A, Knight R, Ward H, Pocchiari M, van Duijn CM, Will RG, Zerr I (2005) Mortality from Creutzfeldt-Jakob disease and related disorders in Europe, Australia, and Canada. Neurology 64:1586–91

    Article  PubMed  CAS  Google Scholar 

  • Ladogana A, Sanchez-Juan P, Mitrova E, Green A, Cuadrado-Corrales N, Sanchez-Valle R, Koscova S, Aguzzi A, Sklaviadis T, Kulczycki J, Gawinecka J, Saiz A, Calero M, van Duijn CM, Pocchiari M, Knight R, Zerr I (2009) Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies. J Neurol 256:1620–8

    Article  PubMed  CAS  Google Scholar 

  • Lee H, Rosenmann H, Chapman J, Kingsley PB, Hoffmann C, Cohen OS, Kahana E, Korczyn AD, Prohovnik I (2009) Thalamo-striatal diffusion reductions precede disease onset in prion mutation carriers. Brain 132:2680–7

    Article  PubMed  Google Scholar 

  • Lemstra AW, van Meegen MT, Vreyling JP, Meijerink PH, Jansen GH, Bulk S, Baas F, van Gool WA (2000) 14-3-3 testing in diagnosing Creutzfeldt-Jakob disease: a prospective study in 112 patients. Neurology 55:514–6

    Article  PubMed  CAS  Google Scholar 

  • Manaka H, Kato T, Kurita K, Katagiri T, Shikama Y, Kujirai K, Kawanami T, Suzuki Y, Nihei K, Sasaki H et al (1992) Marked increase in cerebrospinal fluid ubiquitin in Creutzfeldt-Jakob disease. Neurosci Lett 139:47–9

    Article  PubMed  CAS  Google Scholar 

  • Mancuso M, Siciliano G, Capellari S, Orsucci D, Moretti P, Di Fede G, Suardi S, Strammiello R, Parchi P, Tagliavini F, Murri L (2009) Creutzfeldt-Jakob disease with E200K PRNP mutation: a case report and revision of the literature. Neurol Sci 30:417–20

    Article  PubMed  Google Scholar 

  • Masters CL, Harris JO, Gajdusek DC, Gibbs CJJ, Bernoulli C, Asher DM (1979) Creutzfeldt-Jakob disease: patterns of worldwide occurrence and the significance of familial and sporadic clustering. Ann Neurol 5:177–88

    Article  PubMed  CAS  Google Scholar 

  • Mastrianni JA, Capellari S, Telling GC, Han D, Bosque P, Prusiner SB, DeArmond SJ (2001) Inherited prion disease caused by the V210I mutation: transmission to transgenic mice. Neurology 57:2198–205

    Article  PubMed  CAS  Google Scholar 

  • Masullo C, Bizzarro A, Guglielmi V, Iannaccone E, Minicuci G, Vita MG, Capellari S, Parchi P, Servidei S (2010) An atypical phenotype of CJD associated with the E200K mutation in the prion protein gene. Neurol Sci 31:837–9

    Article  PubMed  Google Scholar 

  • Matoba M, Tonami H, Miyaji H, Yokota H, Yamamoto I (2001) Creutzfeldt-Jakob disease: serial changes on diffusion-weighted MRI. J Comput Assist Tomogr 25:274–7

    Article  PubMed  CAS  Google Scholar 

  • Meissner B, Kallenberg K, Sanchez-Juan P, Krasnianski A, Heinemann U, Varges D, Knauth M, Zerr I (2008) Isolated cortical signal increase on MR imaging as a frequent lesion pattern in sporadic Creutzfeldt-Jakob disease. Am J Neuroradiol 29:1519–24

    Article  PubMed  CAS  Google Scholar 

  • Minghetti L, Cardone F, Greco A, Puopolo M, Levi G, Green AJ, Knight R, Pocchiari P (2002) Increased CSF levels of prostaglandin E(2) in variant Creutzfeldt-Jakob disease. Neurology 58:127–9

    Article  PubMed  CAS  Google Scholar 

  • Nitrini R, Mendonca RA, Huang N, LeBlanc A, Livramento JA, Marie SK (2001) Diffusion-weighted MRI in two cases of familial Creutzfeldt–Jakob disease. J Neurol Sci 184:163–7

    Article  PubMed  CAS  Google Scholar 

  • Nozaki I, Hamaguchi T, Sanjo N, Noguchi-Shinohara M, Sakai K, Nakamura Y, Sato T, Kitamoto T, Mizusawa H, Moriwaka F, Shiga Y, Kuroiwa Y, Nishizawa M, Kuzuhara S, Inuzuka T, Takeda M, Kuroda S, Abe K, Murai H, Murayama S, Tateishi J, Takumi I, Shirabe S, Harada M, Sadakane A, Yamada M (2010) Prospective 10-year surveillance of human prion diseases in Japan. Brain 133:3043–57

    Article  PubMed  Google Scholar 

  • Parazzini C, Mammi S, Comola M, Scotti G (2003) Magnetic resonance diffusion-weighted images in Creutzfeldt-Jakob disease: case report. Neuroradiology 45:50–2

    PubMed  Google Scholar 

  • Parchi P, Castellani R, Capellari S, Ghetti B, Young K, Chen SG, Farlow M, Dickson DW, Sima AAF, Trojanowski JQ, Petersen RB, Gambetti P (1996) Molecular basis of phenotypic variability in sporadic Creutzfeldt-Jakob disease. Ann Neurol 39:767–78

    Article  PubMed  CAS  Google Scholar 

  • Pennington C, Chohan G, Mackenzie J, Andrews M, Will R, Knight R, Green A (2009) The role of cerebrospinal fluid proteins as early diagnostic markers for sporadic Creutzfeldt-Jakob disease. Neurosci Lett 455:56–9

    Article  PubMed  CAS  Google Scholar 

  • Piubelli C, Fiorini M, Zanusso G, Milli A, Fasoli E, Monaco S, Righetti PG (2006) Searching for markers of Creutzfeldt-Jakob disease in cerebrospinal fluid by two-dimensional mapping. Proteomics 6(Suppl 1):256–261

    Article  Google Scholar 

  • Rosenmann H, Meiner Z, Kahana E, Halimi M, Lenetsky E, Abramsky O, Gabizon R (1997) Detection of 14-3-3 protein in the CSF of genetic Creutzfeldt-Jakob disease. Neurology 49:593–5

    Article  PubMed  CAS  Google Scholar 

  • Sanchez JC, Guillaume E, Lescuyer P, Allard L, Carrette O, Scherl A, Burgess J, Corthals GL, Burkhard PR, Hochstrasser DF (2004) Cystatin C as a potential cerebrospinal fluid marker for the diagnosis of Creutzfeldt-Jakob disease. Proteomics 4:2229–33

    Article  PubMed  CAS  Google Scholar 

  • Sanchez-Juan P, Green A, Ladogana A, Cuadrado-Corrales N, Sanchez-Valle R, Mitrova E, Stoeck K, Sklaviadis T, Kulczycki J, Hess K, Bodemer M, Slivarichova D, Saiz A, Calero M, Ingrosso L, Knight R, Janssens C, Van Duijn C, Zerr I (2006) CSF tests in the differential diagnosis of Creutzfeldt-Jakob disease. Neurology 67:637–43

    Article  PubMed  CAS  Google Scholar 

  • Sanchez-Juan P, Sanchez-Valle R, Green A, Ladogana A, Cuadrado-Corrales N, Mitrova E, Stoeck K, Sklaviadis T, Kulczycki J, Hess K, Krasnianski A, Equestre M, Slivarichova D, Saiz A, Calero M, Pocchiari M, Knight R, van Dujin CM, Zerr I (2007) Influence of timing on CSF tests value for Creutzfeldt-Jakob disease diagnosis. J Neurol 254:901–6

    Article  PubMed  CAS  Google Scholar 

  • Schmidt H, Otto M, Niedmann P, Cepek L, Schroter A, Kretzschmar HA, Poser S (2004) CSF lactate dehydrogenase activity in patients with Creutzfeldt-Jakob disease exceeds that in other dementias. Dement Geriatr Cogn Disord 17:204–6

    Article  PubMed  CAS  Google Scholar 

  • Schmidt C, Redyk K, Meissner B, Krack L, von Ahsen N, Roeber S, Kretzschmar H, Zerr I (2010) Clinical features of rapidly progressive Alzheimer’s disease. Dement Geriatr Cogn Disord 29:371–8

    Article  PubMed  CAS  Google Scholar 

  • Schröter A, Zerr I, Henkel K, Tschampa HJ, Finkenstaedt M, Poser S (2000) Magnetic resonance imaging (MRI) in the clinical diagnosis of Creutzfeldt-Jakob disease. Arch Neurol 57:1751–7

    Article  PubMed  Google Scholar 

  • Seror I, Lee H, Cohen OS, Hoffmann C, Prohovnik I (2010) Putaminal volume and diffusion in early familial Creutzfeldt-Jakob disease. J Neurol Sci 288:129–34

    Article  PubMed  Google Scholar 

  • Shyu WC, Hsu YD, Kao MC, Tsao WL (1996) Panencephalitic Creutzfeldt-Jakob disease in a Chinese family. Unusual presentation with PrP codon 210 mutation and identification by PCR-SSCP. J Neurol Sci 143:176–80

    Article  PubMed  CAS  Google Scholar 

  • Silveyra MX, Garcia-Ayllon MS, Calero M, Saez-Valero J (2006) Altered glycosylation of acetylcholinesterase in the Creutzfeldt-Jakob cerebrospinal fluid. J Mol Neurosci 30:65–6

    Article  PubMed  CAS  Google Scholar 

  • Stoeck K, Bodemer M, Ciesielczyk B, Meissner B, Bartl M, Heinemann U, Zerr I (2005) Interleukin 4 and interleukin 10 levels are elevated in the cerebrospinal fluid of patients with Creutzfeldt-Jakob disease. Arch Neurol 62:1591–4

    Article  PubMed  Google Scholar 

  • Stoeck K, Bodemer M, Zerr I (2006) Pro- and anti-inflammatory cytokines in the CSF of patients with Creutzfeldt-Jakob disease. J Neuroimmunol 172:175–81

    Article  PubMed  CAS  Google Scholar 

  • Tomita I, Sato K, Shirabe S, Nagasato K, Satoh A, Tsujihata M (2004) Serial diffusion-weighted MRI (DWI) in a patient with sporadic Creutzfeldt-Jakob disease. Rinsho Shinkeigaku 44:182–6

    PubMed  Google Scholar 

  • Tribl GG, Strasser G, Zeitlhofer J, Asenbaum S, Jarius C, Wessely P, Prayer D (2002) Sequential MRI in a case of Creutzfeld-Jakob disease. Neuroradiology 44:223–6

    Article  PubMed  CAS  Google Scholar 

  • Tschampa HJ, Neumann M, Zerr I, Henkel K, Schröter A, Schulz-Schaeffer WJ, Steinhoff BJ, Kretzschmar HA, Poser S (2001) Patients with Alzheimer’s disease and dementia with Lewy bodies mistaken for Creutzfeldt-Jakob disease. J Neurol Neurosurg Psychiatry 71:33–9

    Article  PubMed  CAS  Google Scholar 

  • Tschampa HJ, Kallenberg K, Urbach H, Meissner BCN, Kretzschmar HA, Knauth M, Zerr I (2005) MRI in the diagnosis of sporadic Creutzfeldt-Jakob disease: a study on inter-observer agreement. Brain 128:2026–33

    Article  PubMed  Google Scholar 

  • Tsuboi Y, Baba Y, Doh-ura K, Imamura A, Fujioka S, Yamada T (2005) Diffusion-weighted MRI in familial Creutzfeldt-Jakob disease with the codon 200 mutation in the prion protein gene. J Neurol Sci 232:45–9

    Article  PubMed  CAS  Google Scholar 

  • Urbach H, Klisch J, Wolf HK, Brechtelsbauer D, Gass S, Solymosi L (1998) MRI in sporadic Creutzfeldt-Jakob disease: correlation with clinical and neuropathological data. Neuroradiology 40:65–70

    Article  PubMed  CAS  Google Scholar 

  • Van Everbroeck B, Quoilin S, Boons J, Martin JJ, Cras P (2003) A prospective study of CSF markers in 250 patients with possible Creutzfeldt-Jakob disease. J Neurol Neurosurg Psychiatry 74:1210–4

    Article  PubMed  Google Scholar 

  • Van Everbroeck B, Dobbeleir I, De Waele M, De Deyn P, Martin J-J, Cras P (2004) Differential diagnosis of 201 possible Creutzfeldt-Jakob disease patients. J Neurol 251:298–304

    Article  PubMed  Google Scholar 

  • WHO (2003) WHO manual for surveillance of human transmissible spongiform encephalopathies including variant Creutzfeldt-Jakob disease, WHO Library Cataloguing-in-Publication Data

    Google Scholar 

  • Will RG, Zeidler M, Stewart GE, Macleod MA, Ironside JW, Cousens SN, Mackenzie J, Estibeiro K, Green AJ, Knight RS (2000) Diagnosis of new variant Creutzfeldt-Jakob disease. Ann Neurol 47:575–82

    Article  PubMed  CAS  Google Scholar 

  • Young GS, Geschwind MD, Fischbein NJ, Martindale JL, Henry RG, Liu S, Lu Y, Wong S, Liu H, Miller BL, Dillon WP (2005) Diffusion-weighted and fluid-attenuated inversion recovery imaging in Creutzfeldt-Jakob disease: high sensitivity and specificity for diagnosis. Am J Neuroradiol 26:1551–62

    PubMed  Google Scholar 

  • Zerr I, Bodemer M, Gefeller O, Otto M, Poser S, Wiltfang J, Windl O, Kretzschmar HA, Weber T (1998a) Detection of 14-3-3 protein in the cerebrospinal fluid supports the diagnosis of Creutzfeldt-Jakob disease. Ann Neurol 43:32–40

    Article  PubMed  CAS  Google Scholar 

  • Zerr I, Giese A, Windl O, Kropp S, Schulz-Schaeffer W, Riedemann C, Skworc K, Bodemer M, Kretzschmar HA, Poser S (1998b) Phenotypic variability in fatal familial insomnia (D178N-129 M) genotype. Neurology 51:1398–1405

    Article  PubMed  CAS  Google Scholar 

  • Zerr I, Pocchiari M, Collins S, Brandel JP, de Pedro CJ, Knight RSG, Bernheimer H, Cardone F, Delasnerie-Lauprêtre N, Cuadrado Corrales N, Ladogana A, Fletcher A, Bodemer M, Awan T, Ruiz Bremón A, Budka H, Laplanche JL, Will RG, Poser S (2000) Analysis of EEG and CSF 14-3-3 proteins as aids to the diagnosis of Creutzfeldt-Jakob disease. Neurology 55:811–5

    Article  PubMed  CAS  Google Scholar 

  • Zerr I, Bodemer M, Kaboth U, Kretzschmar H, Oellerich M, Armstrong VW (2004) Plasminogen activities and concentrations in patients with sporadic Creutzfeldt-Jakob disease. Neurosci Lett 371:163–6

    Article  PubMed  CAS  Google Scholar 

  • Zerr I, Kallenberg K, Summers DM, Romero C, Taratuto A, Ladogana A, Schuur M, Haik S, Collins SJ, Jansen GH, Stokin GB, Pimentel J, Hewer E, Collie DA, Smith P, Varges D, Heinemann U, Meissner B, Roberts H, Brandel JP, Van Dujin CM, Pocchiari M, Begue P, Cras P, Will RG, Sanchez-Juan P (2009) Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Brain 132:2659–68

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Neurology, National Reference Center for TSE, University Medical Center, Robert-Koch-Str. 40, 37075, Göttingen, Germany

    Inga Zerr M.D., Joanna Gawinecka M.D., Katharina Stoeck M.D. & Maren Breithaupt M.D.

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  1. Inga Zerr M.D.
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  2. Joanna Gawinecka M.D.
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  3. Katharina Stoeck M.D.
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  4. Maren Breithaupt M.D.
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Correspondence to Inga Zerr M.D. .

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  1. , Department of Pathology, Case Western Reserve University School o, 2085 Adelbert Road, Cleveland, 44106, Ohio, USA

    Wen-Quan Zou

  2. , Department of Neuropathology, Case Western Reserve University School o, 2085 Adelbert Road, Cleveland, 44106, Ohio, USA

    Pierluigi Gambetti

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Zerr, I., Gawinecka, J., Stoeck, K., Breithaupt, M. (2013). Diagnosis of Prion Disease: Conventional Approaches. In: Zou, WQ., Gambetti, P. (eds) Prions and Diseases. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-5338-3_13

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