Journal of Neurology

, Volume 261, Issue 9, pp 1811–1817 | Cite as

First symptom and initial diagnosis in sporadic CJD patients in Germany

  • Anna Krasnianski
  • Judith Kaune
  • Klaus Jung
  • Hans A. Kretzschmar
  • Inga Zerr
Original Communication


To describe the first symptom/sign and first diagnosis in patients with sporadic Creutzfeldt-Jakob disease (sCJD) in Germany with respect to M129V polymorphism of the prion protein gene and prion protein type. Data on the first symptom/sign and first diagnosis were studied in 492 sCJD patients with probable and definite sCJD and known M129V polymorphism. Unspecific prodromal symptoms such as headache, fatigue, sleep disturbances, “peculiar feeling in the head”, photophobia or weight loss were found in about 10 % of the patients. No prodromal symptoms were found in MV2 and VV1 patients. Dementia was the most common first symptom (37 %) followed by cerebellar (34 %), visual (15 %), and psychiatric disturbances (14 %). The CJD diagnosis was the first diagnosis in only 35 % of the patients (in 42 % of MM, 28 % of MV, and 24.5 % of VV patients). We provide a detailed analysis on clinical presentation and first diagnosis in a large group of patients with sCJD with respect to M129V genotype and prion protein type. These data emphasize the importance of knowledge about CJD and especially rare CJD types among physicians of different specializations. Our findings may improve early recognition of atypical CJD forms.


Prion disease Sporadic CJD M129V polymorphism First symptom 



First of all, we thank the patients and their families. The authors thank all physicians throughout Germany for providing clinical and neuropathological data on patients and for sending CSF and blood samples. We thank Mrs. Henn, Staniszewski, Bodemer, and Ciesielczyk for the excellent technical assistance. The assistance of Mrs. Ehrlich and Schneider-Dominco is gratefully acknowledged. This study was funded by the Robert Koch-Institute through funds of the Federal Ministry of Health (Grant number 1369-341) and the European Commission (PRIORITY, FP7-KBBE-2007-2A).

Conflicts of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.

Ethical standard

All human studies were approved by the ethic commitee of the University of Göttingen. An Informed consent is availble in all patients.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Anna Krasnianski
    • 1
    • 4
  • Judith Kaune
    • 1
    • 5
  • Klaus Jung
    • 2
  • Hans A. Kretzschmar
    • 3
  • Inga Zerr
    • 1
  1. 1.Department of Neurology, University Medical CenterNational Reference Center for TSE Surveillance, Georg-August-Universität Göttingen and German Center for Neurodegenerative Diseases (DZNE)GöttingenGermany
  2. 2.Department of Medical StatisticsUniversity Medical Center, Georg-August UniversityGöttingenGermany
  3. 3.Department of NeuropathologyLudwig-Maximilian UniversityMunichGermany
  4. 4.Department of Psychiatry, Psychosomatic Medicine and PsychotherapyGoethe UniversityFrankfurtGermany
  5. 5.Department of NeurologyBremen Mitte HospitalBremenGermany

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