| Background:In order to discuss the early diagnosis of Creutzfeldt-Jakob disease(CJD)furtherly, we analysed the characteristics of the clinical manifestation and accessoryexaminations about22cases with Creutzfeldt-Jakob disease through a retrospectivestudy.Method:From2009.1to2014.12,we retrospectively collected patients suspected CJDwho came to the Department of Neurology of The First Norman Bethune Hospital ofJilin University. All the patients had taken detailed examinations of the nervoussystem and internal medicine system. Most of the patients had taken the examinationsof EEG、brain MRI、Cerebrospinal fluid14-3-3protein，and some of the patientshad examed the PRNP gene.Results:There were14clinical diagnosed sCJD,6possible sCJD,2genetic sCJD in thetotal22cases. The average age at onset of sCJD was63.4years (range40-77years),while the average age at onset of genetic sCJD was62years (range48-76yaers).Most of the first symptom was memory loss.The most common clinicalmanifestations are myoclonus、 rapidly progressive dementia、 pyramidal orextrapyramidal dysfunction,visual/cerebellar disturbance and mental symptom werealso common clinical manifestations.The positive detection rate of CSF14-3-3protein among clinical diagnosedsCJD、possible sCJD and genetic sCJD is20%、92.3%、100%respectively. Thepatients who tested PRNP gene are proven to be M/M homozygous for PRNP code129and E/E homozygous for PRNP code219. The2genetic sCJD had P102Lmutation and E196A mutation. The positive detection rate of DWI among clinicaldiagnosed sCJD、possible sCJD and genetic sCJD is93%、100%、100%. Thepositive detection rate of EEG among clinical diagnosed sCJD、possible sCJD and genetic sCJD is50%、57%、50%.Conclusion:In the early stage of CJD, there are various clinical manifestations, but none ofthem has specificity in diagnosis. DWI is the most useful tool in all of the accessoryexaminations in the early stage of CJD. |
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