1/196. 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 = 1keywords = brain (Clic here for more details about this article) |
2/196. 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 = 2keywords = brain (Clic here for more details about this article) |
3/196. 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 = 5keywords = brain (Clic here for more details about this article) |
4/196. Argyrophilic grains in late-onset Creutzfeldt-Jakob diseased brain.Braak's argyrophilic grains (ArG) are spindle-shaped structures originally described in patients with dementia. Herein, a unique case of sporadic Creutzfeldt-Jakob disease (CJD) accompanied by numerous ArG is presented. The pathological picture was typical of CJD based on the findings of routine hematoxylin-eosin staining. The highest density of ArG was observed throughout the parahippocampal gyrus and the temporal gyri; however, the sector CA1 of the hippocampus showed less ArG. An immunohistochemical analysis for prion protein (PrP) revealed diffuse fine neuropil staining in the cerebral cortex, while the ArG themselves did not demonstrate any immunoreaction for PrP. No correlation was observed between the densities of ArG and either the presence of senile plaques, neurofibrillary tangles or neuropil threads in the present case. To our knowledge, this is the first report of CJD demonstrating numerous ArG.- - - - - - - - - - ranking = 4keywords = brain (Clic here for more details about this article) |
5/196. 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 = 1keywords = brain (Clic here for more details about this article) |
6/196. Creutzfeldt-Jakob disease diagnosable by EEG and cerebrospinal fluid analysis without brain biopsy: a case report.This case illustrates a classic example of CJD in its clinical presentation and course and the EEG. It also shows dramatically the utility of a newly developed protein assay in the diagnosis of this disease. This assay has the potential of eliminating the need for brain biopsy in most cases, thus providing a safer diagnostic method for both staff and patients. In addition, the case points out that anatomical structural studies such as CT and MRI do not replace the utility of EEG in the comprehensive evaluation of rapid onset dementia, but rather complement the usefulness of EEG.- - - - - - - - - - ranking = 5keywords = brain (Clic here for more details about this article) |
7/196. 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 = 1keywords = brain (Clic here for more details about this article) |
8/196. 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 = 3keywords = brain (Clic here for more details about this article) |
9/196. stroke like presentation of Creutzfeldt Jakob disease: an unusual variant.Creutzfeldt-Jakob disease (CJD) is a degenerative process of the brain, induced by novel infectious agent or prion, and is usually characterized by a rapidly progressive dementia in association with myoclonus. However different patterns of disease presentation have been identified. The authors describe three probable cases of CJD. None of them had positive family history or any known modes of iatrogenic transmission. Interestingly, all the cases presented like a stroke. This is the first series of CJD cases from this part of country.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
10/196. Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.Inherited prion diseases are characterized by mutations in the PRNP gene encoding the prion protein (PrP). As the other sporadic or infectious prion disease forms, they are almost all characterized by the accumulation in the brain of an abnormal misfolded form of the patient's PrP. brain extracts can often transmit the disease once inoculated in a recipient animal. Inherited prion diseases with Creutzfeldt-Jakob disease (CJD) phenotype are autosomal forms, although sporadic cases have been reported. We report three novel mutations of the PRNP gene in unrelated patients with clinical and histopathologic features of CJD. The three mutations were missense: c635G>A (E196K), c656G>A (V203I) and c680G>C (E211Q). Familial history of neurologic disorders was evidenced for patients carrying the E196K and E211Q mutations. E196K would be predicted to have more severe effects on protein stability than V203I and E211Q. These mutations expand the spectrum of mutations in PRNP and reduce the proportion of CJD patients in whom genetic alterations have not been found.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
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