1/183. Atypical case of sporadic Creutzfeldt-Jakob disease (CJD) in a young adult.The great concern exists that new variant of CJD (nvCJD) developed as a result of exposure to bovine spongiform encephalopathy (BSE)-infected meat products. Therefore, all cases of CJD in the young, as the one of ours are the matter of interest. The 21-year-old female developed a rapid progression of pyramidal, extrapyramidal and cerebellar signs, visual loss and psychiatric symptoms, leading to death in 16 weeks. The microscopic features were: a neuronal loss accentuated in cerebral cortex with extensive astroglia proliferation and spongiform changes. Immunohistochemical staining, revealed the presence of "synaptic" deposits of PrP in the cerebral cortex and in the cerebellum. No florid amyloid plaques were present. The case was diagnosed as a sporadic CJD, with some features of Heidenhein variant (visual symptoms) and corticostriatocerebellar category. The pathological findings excluded a nv CJD which is linked with BSE.- - - - - - - - - - ranking = 1keywords = spongiform encephalopathy, spongiform, new variant, encephalopathy, variant (Clic here for more details about this article) |
2/183. Creutzfeldt-Jakob disease presenting with visual blurring, diplopia and visual loss: Heidenhain's variant.Focal electroencephalographic abnormalities as described in Heidenhain's variant of Creutzfeldt-Jakob disease are uncommon. We report a 73-year-old male presenting with visual symptoms, right hemianopia and rapidly progressive dementia. myoclonus was synchronous with generalised periodic epileptiform discharges on electroencephalography (EEG). In addition, there were periodic focal sharp waves at the left occipital region. diffusion-weighted magnetic resonance brain images showed slightly increased signal intensity in the occipital parasagittal area, left more than right. 14-3-3 protein was detected in the cerebrospinal fluid. The patient died within 5 months of presentation.- - - - - - - - - - ranking = 3.6285427116989E-5keywords = variant (Clic here for more details about this article) |
3/183. Creutzfeldt-Jakob disease with florid-type plaques after cadaveric dura mater grafting.BACKGROUND: Many reported cases of iatrogenic Creutzfeldt-Jakob disease (CJD) developed after grafting cadaveric dura mater contaminated with CJD prions (dura-associated CJD). They are known to be clinicopathologically similar to sporadic CJD. We report herein 2 autopsy cases of dura-associated CJD with atypical clinicopathological features. patients: Two patients presented with progressive ataxia and mental deterioration 10 or 11 years after neurosurgical treatment with cadaveric dural grafting, which led to their deaths at 8 and 17 months, respectively, after onset. RESULTS: The cases were clinically atypical in exhibiting no or late occurrence of myoclonus and periodic synchronous discharges on electroencephalographic studies. They were pathologically unique in several aspects. The most striking feature was the presence of many prion protein (PrP) plaques in multiple areas in the brain. Some of them were the "florid" type surrounded by a zone of spongiform changes known to be a hallmark for the new variant CJD. The distribution of spongiform degeneration was also unique in that it was intense in the thalamus, basal ganglia, and the dentate nuclei of the cerebellum but milder in the cerebrum. There were no mutations in the PrP gene of the patients. There was no major difference in the size and glycoform pattern between the abnormal isoform of PrP extracted from the brain tissue from the dura-associated cases of CJD and that from a sporadic case of CJD. CONCLUSIONS: These 2 cases are clinicopathologically distinct from typical dura-associated cases of CJD. They may be a subtype with florid-type plaques in dura-associated CJD.- - - - - - - - - - ranking = 0.16593343152784keywords = spongiform, new variant, variant (Clic here for more details about this article) |
4/183. Submicroscopic immunodetection of PrP in the brain of a patient with a new-variant of Creutzfeldt-Jakob disease.We analyzed the distribution and organization of the pathological prion protein isoform (PrPsc) in the brain of new variant Creutzfeldt-Jakob disease using a sensitive post-embedding immunogold electron microscopy method. On methacrylate semithin sections, silver-PrP staining showed florid plaques, containing microvacuoles. It also revealed scattered granular and perivacuolar deposits. At the electron microscope level, plaque PrP-gold labeling was associated with filaments and flocculent amorphous material sometimes observed inside microvacuoles, considered as degenerative neurites. Outside the plaques, PrP-gold labeling was predominantly found over flocculent amorphous material and the presynaptic domain of synapses. Some lysosome-like organelles seen in the neuron perikaryon, were also found to be PrP-immunoreactive. These results are consistent with the hypothesis that the synapse is a privileged target in prion disease.- - - - - - - - - - ranking = 0.00040988854342575keywords = new variant, variant (Clic here for more details about this article) |
5/183. wernicke encephalopathy-like symptoms as an early manifestation of Creutzfeldt-Jakob disease in a chronic alcoholic.A case of Creutzfeldt-Jakob disease (CJD) with presenting wernicke encephalopathy (WE)-like symptoms and severe insomnia is presented. An 80-year-old alcoholic man with a 6 month history of tremors, ataxia, memory loss and confabulation, developed profound insomnia, confusion, and delirium with vivid hallucinations. polysomnography revealed a marked reduction of sleep time, with central-type sleep apnea. Neither myoclonus nor periodic synchronous discharge (PSD) was observed. An autopsy revealed diffuse spongiform changes and astrocytosis throughout the cerebral gray matter, with severe involvement of the mammillary bodies and thalamus. Prion protein (PrP) immunostaining was positive in kuru plaques in the cerebellum, PrP polymorphism at codon 129 was heterozygous Met/Val, and proteinase K resistant PrP (PrP(res)) was demonstrated by Western blotting. The lack of necrotizing lesions in the mammillary bodies, thalamus, and periaqueductal gray matter could rule out WE. The data suggest that the present case of CJD is consistent with PrP(res) type 2 (CJD M/V 2), but was unique in the lack of some typical CJD signs and the presence of signs of WE and sleep abnormalities.- - - - - - - - - - ranking = 0.083407884945176keywords = spongiform, encephalopathy (Clic here for more details about this article) |
6/183. Sporadic Creutzfeldt-Jakob disease presenting as major depression.We describe a 68-year-old white woman who initially had symptoms of major depression and was admitted to a psychiatric hospital where she had electroconvulsive therapy. With failure of psychiatric treatment and subsequent rapidly progressive dementia, she had left frontal brain biopsy. The biopsy revealed spongiform changes, the hallmark of Creutzfeldt-Jakob disease (CJD). We report a case of sporadic CJD with unusual initial presentation of psychiatric symptoms.- - - - - - - - - - ranking = 0.082776285663052keywords = spongiform (Clic here for more details about this article) |
7/183. Creutzfeldt-Jakob disease, new variant creutzfeldt-jakob disease, and bovine spongiform encephalopathy.Creutzfeldt-Jakob disease (CJD) is a subacute spongiform encephalopathy (SSE) that is manifested by a variety of neurologic signs that usually include dementia, myoclonus, and an abnormal electroencephalogram (EEG). In 1996, a new variant of CJD (nvCJD) with a somewhat distinctive clinical presentation and neuropathology was reported in adolescents and young adults, a cohort of patients not normally affected with CJD. The appearance of nvCJD coincided temporally and geographically with the emergence of an SSE in cattle known as bovine spongiform encephalopathy (BSE), or mad cow disease. This article discusses the clinical syndrome, pathology, and pathogenesis of classical CJD, nvCJD, and other human SSEs, as well as the link between BSE and nvCJD.- - - - - - - - - - ranking = 241.10083790737keywords = creutzfeldt-jakob, variant creutzfeldt-jakob disease, variant creutzfeldt-jakob, creutzfeldt-jakob disease, spongiform encephalopathy, spongiform, new variant, encephalopathy, variant (Clic here for more details about this article) |
8/183. Type 1 protease resistant prion protein and valine homozygosity at codon 129 of PRNP identify a subtype of sporadic Creutzfeldt-Jakob disease.A man was studied with sporadic Creutzfeldt-Jakob disease (sCJD) who had serial cortical syndromes evolving over 15 months without significant ataxia, prominent myoclonus, or periodic complexes on EEG examinations. This clinical phenotype correlated with a predominantly cortical and striatal distribution of lesions and accumulation of protease resistant prion protein with relative sparing of the brainstem or cerebellum. No amyloid plaques were seen and prion protein (PrP) immunohistochemistry only demonstrated very faint granular deposits in the cerebral cortex. Molecular analysis showed homozygosity for valine at codon 129 in the prion protein gene (PRNP) and protease resistant prion protein type 1 deposition. The comparison of molecular and clinicopathological features of the present case with those previously reported in sCJD, indicates that valine homozygosity at codon 129 and type 1 protease resistant prion protein are associated with a distinct phenotypic variant of sCJD. The data also support the view that the PRNP codon 129 polymorphism and the physicochemical properties of the protease resistant prion protein are major determinants of phenotypic variability in sCJD.- - - - - - - - - - ranking = 7.2570854233977E-6keywords = variant (Clic here for more details about this article) |
9/183. Clinical range and MRI in Creutzfeldt-Jakob disease with heterozygosity at codon 129 and prion protein type 2.A 68 year old woman with sporadic Creutzfeldt-Jakob disease is described, who neither showed characteristic EEG abnormalities nor a positive test of the neuronal protein 14-3-3 or neuron specific enolase (NSE) in CSF, despite a clinical presentation with ataxia of cerebellar type, rapidly progressive dementia, myoclonus, and marked hyperintense signal abnormalities in the deep cortical layers and the basal ganglia on T2 and diffusion weighted MRI. Moreover she showed atypical clinical features with a syndrome of inappropriate antidiuretic hormone (ADH) secretion (SIADH) and a peripheral sensorimotor polyneuropathy. Whether these disturbances are independent of Creutzfeldt-Jakob disease or a feature of it is discussed. It has recently been shown that in Creutzfeldt-Jakob disease different clinical and pathological phenotypes correlate with the polymorphism at codon 129 of the prion protein gene (PRNP) and the type of the protease resistant fragment that accumulates in the brain. According to the new classification at least six sporadic variants of Creutzfeldt-Jakob disease exist. The molecular genetic analysis showed heterozygosity of PRNP at codon 129 for methionine and valine and the presence of PrP(CJD) type 2 in the brain of this patient. As a new feature of changes on MRI, striking cortical changes of hyperintense signals are described in diffusion weighted as well as T2 weighted MRI that directly correlate with the histomorphological spongy degeneration of the brain in this region. In cases of rapidly progressive dementia, Creutzfeldt-Jakob disease always needs to be considered even if unusual features are present and current diagnostic criteria are not in favour of this disease.- - - - - - - - - - ranking = 7.2570854233977E-6keywords = variant (Clic here for more details about this article) |
10/183. New haplotype of familial Creutzfeldt-Jakob disease with a codon 200 mutation and a codon 219 polymorphism of the prion protein gene in a Japanese family.We report a new haplotype of familial Creutzfeldt-Jakob disease (CJD) with a codon 200 mutation and a codon 219 polymorphism of the prion protein gene in a Japanese family. There were four cases diagnosed with CJD neuropathologically, one of which was identified with a codon 200 mutation (glutamic acid to lysine) and a codon 219Lys polymorphism on the same allele. Clinicopathologically, two cases had a long clinical course, whereas the others were similar to the cases with a codon 200 mutation. Three cases was diagnosed with the panencephalopathic-type CJD neuropathologically and the other was diagnosed with the subacute spongiform encephalopathy, a subtype of CJD. We consider that the clinicopathological features in familial CJD are not steadily uniform and that it is impossible to state definitely from this study whether the codon 219 polymorphism influences the clinicopathological aspects in familial CJD with a codon 200 mutation (glutamic acid to lysine).- - - - - - - - - - ranking = 0.91683559704979keywords = spongiform encephalopathy, spongiform, encephalopathy (Clic here for more details about this article) |
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