Klinische und diagnostische Eigenschaften der sporadischen Creutzfeldt-Jakob-Krankheit bei Patienten mit positiver Familienanamnese für Demenz oder Morbus Parkinson

Content Provider	Semantic Scholar
Author	Krautwald, Lisa
Copyright Year	2016
Abstract	OBJECTIVE It was suggested that the cause of sporadic Creutzfeldt-Jakob disease (sCJD) is a spontaneous change in configuration of the prion protein. The acceptance of the influence of the misfolded protein chains which present in neurodegenerative disease such as Alzheimer’s disease or Parkinson on the development of a second protein misfolding provides a possible link between the occurrence of neurodegenerative diseases and prion diseasses. The purpose of this retrospective study was to analyze the clinical and diagnostic features of sCJD patients with Parkinsons disease or dementia in the family history in an aim to improve the diagnosis. METHODS Data of 133 patients with definite or probable sCJD with a known expression at codon-129 were collected. The siblings, parents or grandparents from maternal or paternal side presented a Parkinson’s disease or a dementia illness. A control group was added after allocation by gender, age (+/- 5 years) and PRNP codon-129 genotype. The work focuses on the clinical symptoms, the biochemical CSF markers and the results of imaging techniques such as electroencephalography, cerebral computed tomography and magnetic resonance imaging. RESULTS First neurological symptoms were cerebellar disorders (ataxia), psychiatric and visual disturbances, while a dementing development took place only during the course. With the disease progress pyramidal tract sings were frequent whereas extrapyramidal disorder diagnosed much less frequently. Overall, the clinical response was more noticed in the group FA-Parkinson (for example, frequent occurrence of drive faults) while FA-Dementia was mostly equal to the control group. With the detection of PSWC in EEG in 53% FA-Dementia and 61% FA-Parkinson the sensitivity of EEG investigation does not exceed that of for sCJD of 64% (Steinhoff et al. 2004). With a detection of proteins 14-3-3 in the cerebrospinal fluid in 96% (FA Dementia) and 100% (FA Parkinson) it is assumed to result in a high sensitivity for sCJD as well (94%, Zerr et al. 2000a). The sensitivity of the NSE is very high in the patients in this study, while the S100B protein in FA Parkinson patients significantly less reaches the cut-off value. A CJD typical MRI findings (hyperintense basal ganglia or cortical signal increase) was found only in 52% of FA Dementia and 49% with FA Parkinson. CONCLUSION According to the findings of this study, ist can be stated that in these patients, dementia is not primarily groundbreaking for the diagnosis, but attention must be paid to the presence of cerebellar or psychiatric symptoms. In the diagnosis the EEG with a high sensitivity is of great importance, while the MRI examination is less groundbreaking. In Parkinson’s disease running in the family, the CSF does not support the diagnosis much while suggesting pathological values of tau protein and amyloid-s 1-42 in patients with dementia in the family suggest a sCJD.
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Alternate Webpage(s)	https://ediss.uni-goettingen.de/bitstream/handle/11858/00-1735-0000-0028-8780-1/Krautwald%20Feb%202016.pdf?sequence=1
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article