Genetische Creutzfeldt-Jakob-Krankheit in Deutschland (1993-2010) - Charakterisierung dreier häufiger Mutationen in Abgrenzung zur sporadischen Creutzfeldt-Jakob-Krankheit und eine klinische Darstellung von seltenen Mutationen

Genetic Creutzfeldt-Jakob disease in Germany (1993-2010) - Characterization of three common mutations in contrast to sporadic Creutzfeldt-Jakob disease and a clinical presentation of rare mutations

by Gabi Bosold
Doctoral thesis
Date of Examination:2014-04-29
Date of issue:2014-04-01
Advisor:Prof. Dr. Inga Zerr
Referee:Prof. Dr. Inga Zerr
Referee:Prof. Dr. Thomas G. Schulze
Referee:Prof. Dr. Martin Oppermann
Persistent Address: http://dx.doi.org/10.53846/goediss-4435

 

 

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Abstract

English

This dissertation presents common and rare genetic CJD in their clinical presentation. The aim was to find a differentiation between the sporadic CJD and the common genetic CJD E200K and V210I. The other part was a clinical characterisation of the E196K mutation and the presentation of four novel mutations in PRNP (Q52P, V203G, Q212H, N173K). The results were that the genetic forms of CJD presents similiar clinical symptoms and result in the diagnostic tests so that in absent of a positiv familyhistory of CJD a genetic testing should be part of the diagnostic.
Keywords: Prion; gCJD
Schlagwörter: Prionerkrankung; genetische Creutzfeldt-Jakob-Krankheit
 
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