Rare cause of rapidly progressive dementia – Creutzfeldt-Jakob disease (CJD) with negative 14-3-3 protein – Case Report
More details
Hide details
Student Research Group of Neurology, Medical University, Lublin, Poland
Chair and Department of Neurology, Medical University, Lublin, Poland
Corresponding author
Anna Jamroz-Wiśniewska   

Chair and Department of Neurology, Medical University of Lublin, Poland
J Pre Clin Clin Res. 2019;13(3):134-136
Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common form of prion diseases. Although almost 100 years have passed since this disease was first described, specific treatment still does not exist. The case is presented of a 57-year-old woman, initially diagnosed with ischemic stroke. On the day of admission to hospital she presented non-specific symptoms (speech disorders, visual disturbances). During hospitalization, the patient presented rapidly progressive dementia. Later, new symptoms, such as blindness, akinetic mutism, rigidity and myoclonus appeared. With the progression of the disease, the patient developed characteristic MRI and EEG changes for sCJD. After excluding other potential causes, the diagnosis of probable sCJD was made. However, the result of 14-3-3 protein in the cerebrospinal fluid (CSF), characteristic for CJD,was negative. This case report highlights the importance and difficulties in differential diagnosis of rapidly deteriorating cognitive function disorder.
Ronnie H, Frederick A. Murphy. Etymologia: Creutzfeldt-Jakob Disease. Emerg Infect Dis. 2017; 23(6): 956. ET2306.
Iwasaki Y. Creutzfeldt-Jakob disease. Neuropathology. 2017; 37(2): 174–188.
Geschwind MD. Prion Diseases. Neuroinfectious Disease. 2015; 21: 1612–1638.
Puoti G, Bizzi A, Forloni G, Safar JG, Tagliavini F, Gambetti P.Sporadic human prion diseases: molecular insights and diagnosis. Lancet Neurol. 2012; 11(7): 618–628.
Zerr I, Poser S. Clinical diagnosis and differential diagnosis of CJD and vCJD. With special emphasis on laboratory tests. APMIS. 2002; 110(1): 88–98.
Roos R, Gajdusek DC, Gibbs CJ Jr. The clinical characteristics of transmissible Creutzfeldt-Jakob disease. Brain. 1973; 96(1): 1–20.
Geiger KD, Brecht U, Schober R, Schlote W. Creutzfeldt-Jakob-Krankheit: Fehlende Korrelation zwischen zerebraler kortikaler Histologie und klinischem Verlauf der Erkrankung in 22 Obduktionsfällen [CreutzfeldtJakob disease. Lack or correlation between cerebral cortex histology and clinical course of the disease in 22 autopsy cases]. Pathologe. 2002; 23: 252–259.
National Creutzfeldt-Jakob Disease Surveillance Diagnostic Criteria. National Creutzfeldt-Jakob Disease Surveillance 2017. https://www.cjd. (access: 2019.04.04).
Martin H, Rostas J, Patel Y, Aitken A. Subcellular localisation of 14-3-3 isoforms in rat brain using specific antibodies. J Neurochem. 1994;63(6): 2259–2265.
Muayqil T, Gronseth G, Camicioli R. Evidence-based guideline: diagnostic accuracy of CSF 14-3-3 protein in sporadic CreutzfeldtJakob disease: report of the guideline development subcommittee of the American Academy of Neurology. Neurology. 2012; 79(14): 1499–1506.
Burkhard PR, Sanchez JC, Landis T, Hochstrasser DF.CSF detection of the 14-3-3 protein in unselected patients with dementia. Neurology. 2001; 56(11): 1528–1533.
Huang N, Marie SK, Livramento JA, Chammas R, Nitrini R. 14-3- 3 protein in the CSF of patients with rapidly progressive dementia, Neurology. 2003; 61(3): 354–357. WNL.0000078890.89473.ED.
Furlan AJ, Henry CE, Sweeney PJ, Mitsumoto H. Focal EEG abnormalities in Heidenhain’s variant of Jakob-Creutzfeldt disease. Arch Neurol. 1981; 38(5): 312–314.
Steinhoff BJ, Racker S, Herrendorf G, Poser S, Grosche S, Zerr I, et al. Accuracy and reliability of periodic sharp wave complexes (PSWC) in Creutzfeldt–Jakob disease. Arch Neurol. 1996; 53(2): 162–166. http://
Sutter R, Stevens RD, Kaplan PW. Significance of triphasic waves in patients with acute encephalopathy: a nine-year cohort study. Clin Neurophysiol. 2013; 124(10): 1952–1958. clinph.2013.03.031.
Steinhoff BJ, Zerr I, Glatting M, Schulz-Schaeffer W, Poser S, Kretzschmar HA. Diagnostic value of periodic complexes in Creutzfeldt-Jakob disease. Ann Neurol. 2004; 56(5): 702–708. clinph.2013.03.031.
Young GS, Geschwind MD, Fischbein NJ, Martindale JL, Henry RG, Liu S, et al. Diffusion-weighted and fluid-attenuated inversion recovery imaging in Creutzfeldt-Jakob disease: high sensitivity and specificity for diagnosis. AJNR Am J Neuroradiol. 2005; 26(6): 1551–1562.
Fragoso DC, Gonçalves Filho AL, Pacheco FT, Barros BR, Aguiar Littig I, Nunes RH, et al. Imaging of Creutzfeldt-Jakob Disease: Imaging Patterns and Their Differential Diagnosis. RadioGraphics. 2017; 37(1): 234–257.
McGuire LI, Peden AH, Orrú CD, Wilham JM, Appleford NE, Mallinson G, et al. Real Time Quaking-Induced Conversion Analysis of Cerebrospinal Fluid in Sporadic Creutzfeldt-Jakob Disease. Ann Neurol. 2012; 72(2): 278–285.
Green AJE. RT-QuIC: a new test for sporadic CJD. Pract Neurol. 2019; 19(1): 49–55.
Journals System - logo
Scroll to top