The Study On The Clinical Characteristics Of Sporadic Creutzfeldt-Jakob Disease

Objective：To investigate the clinical features and the characteristics of cerebrospinalfluid,electroencephalogram,radiology and neuropathology of sporadicCreutzfeldt-Jakob disease (referred to as sCJD) with the aim of trying to achieveearlier diagnosis and reduce the iatrogenic transmission.Methods：22inpatients diagnosed as definite and probable cases of sCJD wererecruited from the First Affiliated Hospital of Fujian Medical University between2002and2012.General information and detail data with clinicalmanifestations,serology,cerebrospinal fluid,electroencephalogram,imageology andpathology were collected for this retrospective study. Combing with the domestic andforeign literature，a further discussion will be made.Results:81.82%patients were subacute onset, median age was59years.The initialsymptoms were mostly presented as cognitive impairment and nonspecific psychiatricsymptoms were seen in31.82%patients,which readily led to the early misdiagnosisas viral encephalitis,hashimotos encephalopathy etal.Clinical presentation wascharacterized by progressive dementia,followed by ataxia, visualdisorder,myoclonus,pyramidal and extrapyramidal abnormalities.19cases CSF cytology and biochemistry were normal,CSF14-3-3proteinwere analysed in7cases which were all positive with median time for8week. Thecharacteristic EEG changes which manifested as paroxysmal or persistent periodicbiphase，triphase and multiphase sharp and slow wave complexs were occurred in21cases.8patients showed generally slow waves on EEG in the early stage andpresented typical waves when rechecked, and1patient was found to have the periodicwaves disappeared in the advanced stage of the disease.High signals in the cerebral cortex and the striatum were observed in themedian time of7.5weeks,the hyperintensities occurred most frequently in T2andDWI sequence, no abnormalities were found in T1WI，and no enhancement effectswere detected.In the ten cases of hyperintensities on DWI scan,three cases have not yet shown legions on T2WI sequence,six cases of periodic brainwave delayedwhen compared with DWI abnormalities.12cases of DWI,T2WI and EEG resultswere compared respectively,and it did not reach statistical significance variation inpositive incident to the test.5patients were found to have the high signal of putamenalways accompanied by ipsilateral caudate nucleus hyperintensities during7-22weeks,2cases occurred caudate nucleus hyperintensities only without acombination of putamen abnormalities in3-4weeks.81.25%cases died within one year after onset，median duration of illness was5.19months.An analysis of changes in the duration were undertook when the age of59years made as boundary,those age at onset greater than critical point presented withthe short duration of illness.Conclusions:1、sCJD were usually subacute onset,occurred in individuals in anelderly population.Clinical presentation was characterized by progressivedementia,followed by ataxia, visual disorder,myoclonus,pyramidal andextrapyramidal abnormalities.The nonspecific early symptoms always resulted tomisdiagnosis.2、Positive CSF14-3-3protein in CSF,typical EEG findings and highsignal abnormalities in the cerebral cortex or the striatum on T2WI/DWI weresignificant in the diagnosis of sCJD.3、Wheather DWI was more sensitive in diagnosisof sCJD than T2WI and EEG,could it be used as potential parameters for evaluatingthe state of illness,a larger cohort of patients would be needed to identify.4、There isno proven treatment,the majority of cases died within one year.The age of onsetmay affect the survival time,which would need to be rigorously validated byassociating with molecular subtype in a cohort of patients.