Three sporadic cases of Creutzfeldt-Jakob disease in China and their clinical analysis

Abstract

Abstract. The present study described the characteristics of three cases of Creutzfeldt-Jakob disease (CJD) in China and analyzed their clinical presentations. The clinical information of the three cases was collected and analyzed. Blood and cerebrospinal fluid (CSF) specimens of the patients were collected for detection of the prion protein (PRNP) gene and 14-3-3 protein levels. Dynamic changes of electroencephalograms (EEGs) and brain magnetic resonance images (MRIs) were also observed. All the three cases were sporadic CJD cases. They presented with symptoms including hyposthenia, progressive memory loss, truncal and limb ataxia, dysarthria, lowered vision acuity, bucking, language disorders, myoclonia and akinetic mutism state. One of the three cases was associated with a prolonged duration of >6 years. The EEG of two cases showed slow biphasic waves. The diffusion-weighted MRI sequence revealed abnormal hyperintensity and bilateral ribboning in the cortex. Two patients tested positive for the 14-3-3 protein in the CSF. All patients were of methionine homozygosity at codon 129 in the gene encoding PRNP protein and one patient had a mutation. The CJD cases showed differences in terms of symptoms and disease duration. Subacute onset was common and with attentive nursing and supportive treatments, one of the patients had a prolonged survival time of >6 years. IntroductionCreutzfeldt-Jakob disease (CJD) is a progressive neurodegenerative disorder that is caused by prion protein deposition in the central nervous system. As the most common type of human transmissible spongiform encephalopathy, CJD is incurable and fatal with a duration from a few months to two years (1). Typical CJD triad symptoms include progressive dementia, myoclonus and electroencephalographic (EEG) changes (periodic triphasic sharp wave complexes) (2). Traditionally, CJD is classified as sporadic (sCJD), familial (fCJD), iatrogenic (iCJD) and variant CJD (vCJD) (3). Different subtypes are associated with specific clinical symptoms and pathological features (4,5). sCJD, accounting for ~85% of all cases worldwide, is categorized into six subtypes according to the methionine (M)/valine (V) polymorphism at codon 129 of the PRNP gene (6,7). fCJD accounts for 5-10% of all cases and is an autosomal dominant disorder associated with various mutations of the PRNP gene (8,9). The main causes of iCJD include contaminated human hormone supplements, corneal transplantation and transplantation of cadaveric dura mater (10). At present, vCJD, which is transmitted from cows with bovine spongiform encephalopathy to humans, mainly affects younger adults in Europe with different clinical, etiological and neuropathological features as well as risk factors compared with other types of CJD (11-13).Although final diagnosis of CJD requires neuropathological biopsy examination of affected brain tissues, nonpathological methods are currently used worldwide for the early diagnosis and prevention of CJD (14). At present, the diagnosis of CJD is frequently delayed or CJD ...

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