Clinical, Electrophysiological, Radiological Features and Prognosis of Creutzfeldt – Jakob Disease

Soysal, Aysun; Gul, Gunay; EREN, FULYA; Atakli, Hayrunisa Dilek; Aksoy, Sena; Ceyhan Dirican, Ayten

Clinical, Electrophysiological, Radiological Features and Prognosis of Creutzfeldt – Jakob Disease

Fulya EREN, (Bakırköy Prof. Dr. Mazhar Osman Nöropsikiyatri Eğitim ve Araştırma Hastanesi, Nöroloji Anabilim Dalı, İstanbul. Türkiye)

Sena GÜLER, (Bakırköy Prof. Dr. Mazhar Osman Nöropsikiyatri Eğitim ve Araştırma Hastanesi, Nöroloji Anabilim Dalı, İstanbul. Türkiye)

Günay GÜL, (Bakırköy Prof. Dr. Mazhar Osman Nöropsikiyatri Eğitim ve Araştırma Hastanesi, Nöroloji Anabilim Dalı, İstanbul. Türkiye)

Ayten CEYHAN DİRİCAN, (Bakırköy Prof. Dr. Mazhar Osman Nöropsikiyatri Eğitim ve Araştırma Hastanesi, Nöroloji Anabilim Dalı, İstanbul. Türkiye)

Dilek ATAKLI, (Bakırköy Prof. Dr. Mazhar Osman Nöropsikiyatri Eğitim ve Araştırma Hastanesi, Nöroloji Anabilim Dalı, İstanbul. Türkiye)

Aysun SOSYAL (Bakırköy Prof. Dr. Mazhar Osman Nöropsikiyatri Eğitim ve Araştırma Hastanesi, Nöroloji Anabilim Dalı, İstanbul. Türkiye)

Epilepsi

2 0

Yıl: 2020 Cilt: 26 Sayı: 3 Sayfa Aralığı: 169 - 173 Metin Dili: İngilizce İndeks Tarihi: 17-02-2022

Clinical, Electrophysiological, Radiological Features and Prognosis of Creutzfeldt – Jakob Disease

Öz:

Objectives: Creutzfeldt- Jakob Disease (CJD) is a neurodegenerative disease characterized by abnormally-shaped proteins. CJD is the most common type of prion diseases with incidence of 1/100000 per year. In this study, we aimed to review clinical, laboratory, electrophysiological and radiological findings and prognosis of 21 cases with the diagnosis of CJD. Methods: A retrospective review of patient records in a single institution was performed to identify patients with sporadic CJD from 2010 to 2018. January 2017 diagnostic criteria were used for inclusion. In this study, 21 patients were included for analysis. Demographic features, symptoms, clinical findings of neurological examination, disease duration, laboratory findings, electrophysiological test results, findings of magnetic resonance imaging and prognosis were documented. Results: Twelve of the patients included in this study were male and nine were female. The mean age was 64.1 (49–79). All the patients had dementia and changes in personality at admission to the hospital. The duration of complaints was 5.4±4 months. Periodic sharp wave complexes were observed in the electroencephalogram at baseline or follow-up. Twenty patients had undergone lumbar puncture to identify 14.3.3 protein tests in cerebrospinal fluid. In six of twelve patients whose results were received, 14.3.3 protein level was positive, whereas four of them were negative and two were at borderline. Seven patients died of the disease during the follow-up in our hospital within 2.8 (1–6) months from the symptom onset. Conclusion: In patients with rapidly progressive dementia, behavioral changes, hallucinations and myoclonus, CJD should be kept in mind for earlier diagnosis.

Anahtar Kelime:

Creutzfeldt-Jacob Hastalığının Klinik, Elektrofizyolojik Özellikleri ve Prognozu

Öz:

Amaç: Creutzfeld Jacob hastalığı (CJH) hızlı ilerleyen demans, miyokloniler ile seyreden ve kısa sürede ölüm ile sonuçlanan nörodejeneratif bir hastalıktır. Bu çalışmada, oldukça nadir görülen bu hastalık tanısı ile takip edilen 21 olgunun klinik, laboratuvar, elektrofizyolojik ve radyolojik bulgularının gözden geçirilmesi amaçlanmıştır. Gereç ve Yöntem: Hastanemiz nöroloji kliniklerinde 2010–2018 yılları arasında CJH tanısı ile yatarak takip edilmiş olan 21 hasta çalışmaya dahil edilmiştir. Hastaların demografik özellikleri, muayene bulguları, hastalık süresi, laboratuvar testleri, elektrofizyolojik ve radyolojik incelemeleri, prognozları geriye dönük olarak dökümente edilmiştir. Bulgular: Hastaların 12’si erkek, dokuzu kadındı. Ortalama yaş 64.1 (49–79) olarak bulundu.Tüm hastalar hastaneye başvurduklarında demans ve kişilik değişikliğinden yakınmaktaydı. Şikayetlerin başlangıç süresi 5.4±4 ay olarak bulundu. Başlangıçta ya da takiplerinde EEG’lerde periyodik keskin yavaş dalga kompleksleri tespit edildi. Yirmi hastaya beyin omurilik sıvısında (BOS) 14.3.3 proteini testi yapılması için lomber ponksiyon yapıldı. Sonuçlarına ulaşılan 12 hastanın altısında BOS’de 14.3.3 proteini pozitif, dördünde negatif, ikisinde de sınır değer olarak bulundu. Yedi hastanın hastanedeki takipleri sırasında, semptomların başlangıcından ortalama 2.8 (1–6) ay sonra öldüğü dökümente edildi. Sonuç: Hızlı ilerleyen demans, davranış değişiklikleri, halusinasyonlar ve miyokloniler ile birlikte seyreden CJH, psikiyatrik ve nörolojik pek çok tablo ile ayırıcı tanıya girebildiğinden erken tanıda akılda tutulması gereken bir hastalıktır.

Anahtar Kelime:

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık

1. Geschwind MD. Prion Diseases. Continuum (Minneap Minn) 2015;21(6 Neuroinfectious Disease):1612–38.
2. Mackenzie G, Will R. Creutzfeldt-Jakob disease: recent developments. F1000Res 2017;6:2053.
3. Wang X, Li N, Liu A, Ma L, Shan P, Jiang W, et al. Three sporadic cases of Creutzfeldt-Jakob disease in China and their clinical analysis. Exp Ther Med 2017;14:2664–70.
4. Tan B, Mangual CM, Mahmud I, Tongo ND, Mararenko L, Kay A. A Case Report of Probable Sporadic Creutzfeldt-Jakob Disease: How to Approach Early Diagnosis? Cureus 2017;9(5):e1297.
5. Appleby BS, Yobs DR. Symptomatic treatment, care, and support of CJD patients. Handb Clin Neurol 2018;153:399–408.
6. Hermann P, Laux M, Glatzel M, Matschke J, Knipper T, Goebel S, et al. Validation and utilization of amended diagnostic criteria in Creutzfeld-Jacob disease surveillance,Neurology, 2018;91(4): e331–e338.
7. Aykac O, Arıca Polat BS, Erdoğan S, Sorgun MH, Delen F, Tuncay E, et al. Sporadik Creutzfeldt-Jacob Hastalığı: On Altı Hastanın Dökümü. Epilepsi 2016;22(2):46–50.
8. Dulamea A, Solomon E. Role of the biomarkers for the diagnosis of Creutzfeldt-Jakob disease. J Med Life 2016;9(2):211–5.
9. 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):234–57.
10. Qavi AH, Imran TF, Hasan Z, Ilyas F, Ghani U, Assad S, et al. Serial Magnetic Resonance Imaging in Creutzfeldt-Jakob Disease: a Case Report and Literature Review. Cureus 2017;9(3):e1095.
11. 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):1551–62.
12. Rudge P, Hyare H, Green A, Collinge J, Mead S. Imaging and CSF analyses effectively distinguish CJD from its mimics. J Neurol Neurosurg Psychiatry 2018;89(5):461–6.
13. Isfahani SA, Dougherty M, Gliebus GP. Applicability of longterm electroencephalography in pre-mortem diagnosis of Creutzfeldt–Jakob disease: A case report. SAGE Open Medical Case Reports 2017;5:1–5.
14. Ayyappan S, Seneviratne U. Electroencephalographic changes in sporadic Creutzfeldt-Jakob disease and correlation with clinical stages: a retrospective analysis. J Clin Neurophysiol 2014;31(6):586–93.
15. Wieser HG, Schindler K, Zumsteg D. EEG in Creutzfeldt-Jakob disease. Clin Neurophysiol 2006;117(5):935–51.
16. Peckeu L, Delasnerie-Lauprètre N, Brandel JP, Salomon D, Sazdovitch V, Laplanche JL, et al. Accuracy of diagnosis criteria in patients with suspected diagnosis of sporadic Creutzfeldt-Jakob disease and detection of 14-3-3 protein, France, 1992 to 2009. Euro Surveill 2017;22(41):16–00715.
17. Gushue D, Herbst A, Sim V, McKenzie D, Aiken JM. 14-3-3 and enolase abundances in the CSF of Prion diseased rats. Prion 2018;12(3-4):253–60.
18. Zanusso G, Monaco S, Pocchiari M, Caughey B. Advanced tests for early and accurate diagnosis of Creutzfeldt-Jakob disease. Nat Rev Neurol 2016;12(6):325–33.
19. Thompson AGB, Luk C, Heslegrave AJ, Zetterberg H, Mead SH, Collinge J, et al. Neurofilament light chain and tau concentrations are markedly increased in the serum of patients with sporadic Creutzfeldt-Jakob disease, and tau correlates with rate of disease progression. J Neurol Neurosurg Psychiatry 2018;89(9):955–61.

APA	EREN F, Aksoy S, Gul G, Ceyhan Dirican A, Atakli H, Soysal A (2020). Clinical, Electrophysiological, Radiological Features and Prognosis of Creutzfeldt – Jakob Disease. , 169 - 173.
Chicago	EREN FULYA,Aksoy Sena,Gul Gunay,Ceyhan Dirican Ayten,Atakli Hayrunisa Dilek,Soysal Aysun Clinical, Electrophysiological, Radiological Features and Prognosis of Creutzfeldt – Jakob Disease. (2020): 169 - 173.
MLA	EREN FULYA,Aksoy Sena,Gul Gunay,Ceyhan Dirican Ayten,Atakli Hayrunisa Dilek,Soysal Aysun Clinical, Electrophysiological, Radiological Features and Prognosis of Creutzfeldt – Jakob Disease. , 2020, ss.169 - 173.
AMA	EREN F,Aksoy S,Gul G,Ceyhan Dirican A,Atakli H,Soysal A Clinical, Electrophysiological, Radiological Features and Prognosis of Creutzfeldt – Jakob Disease. . 2020; 169 - 173.
Vancouver	EREN F,Aksoy S,Gul G,Ceyhan Dirican A,Atakli H,Soysal A Clinical, Electrophysiological, Radiological Features and Prognosis of Creutzfeldt – Jakob Disease. . 2020; 169 - 173.
IEEE	EREN F,Aksoy S,Gul G,Ceyhan Dirican A,Atakli H,Soysal A "Clinical, Electrophysiological, Radiological Features and Prognosis of Creutzfeldt – Jakob Disease." , ss.169 - 173, 2020.
ISNAD	EREN, FULYA vd. "Clinical, Electrophysiological, Radiological Features and Prognosis of Creutzfeldt – Jakob Disease". (2020), 169-173.

APA	EREN F, Aksoy S, Gul G, Ceyhan Dirican A, Atakli H, Soysal A (2020). Clinical, Electrophysiological, Radiological Features and Prognosis of Creutzfeldt – Jakob Disease. Epilepsi, 26(3), 169 - 173.
Chicago	EREN FULYA,Aksoy Sena,Gul Gunay,Ceyhan Dirican Ayten,Atakli Hayrunisa Dilek,Soysal Aysun Clinical, Electrophysiological, Radiological Features and Prognosis of Creutzfeldt – Jakob Disease. Epilepsi 26, no.3 (2020): 169 - 173.
MLA	EREN FULYA,Aksoy Sena,Gul Gunay,Ceyhan Dirican Ayten,Atakli Hayrunisa Dilek,Soysal Aysun Clinical, Electrophysiological, Radiological Features and Prognosis of Creutzfeldt – Jakob Disease. Epilepsi, vol.26, no.3, 2020, ss.169 - 173.
AMA	EREN F,Aksoy S,Gul G,Ceyhan Dirican A,Atakli H,Soysal A Clinical, Electrophysiological, Radiological Features and Prognosis of Creutzfeldt – Jakob Disease. Epilepsi. 2020; 26(3): 169 - 173.
Vancouver	EREN F,Aksoy S,Gul G,Ceyhan Dirican A,Atakli H,Soysal A Clinical, Electrophysiological, Radiological Features and Prognosis of Creutzfeldt – Jakob Disease. Epilepsi. 2020; 26(3): 169 - 173.
IEEE	EREN F,Aksoy S,Gul G,Ceyhan Dirican A,Atakli H,Soysal A "Clinical, Electrophysiological, Radiological Features and Prognosis of Creutzfeldt – Jakob Disease." Epilepsi, 26, ss.169 - 173, 2020.
ISNAD	EREN, FULYA vd. "Clinical, Electrophysiological, Radiological Features and Prognosis of Creutzfeldt – Jakob Disease". Epilepsi 26/3 (2020), 169-173.