1/92. 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 = cortex (Clic here for more details about this article) |
2/92. 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 = 0.5keywords = cortex (Clic here for more details about this article) |
3/92. Leptomeningeal melanoma and Creutzfeldt-Jakob disease in a patient with chronic lymphocytic leukaemia.A 78-year-old woman with known chronic lymphocytic leukaemia (CLL) was admitted to a psychiatric unit because of rapidly declining cognitive function. Clinical examination also revealed cerebellar signs and she later became akinetic and mute. She deteriorated and died of bronchopneumonia. The histology from the post-mortem confirmed the presence of CLL in the lymph nodes and she was also found to have diffuse leptomeningeal melanoma. In addition, there was extensive prion protein deposition in the cerebral cortex, but without significant spongiosis. The astrocytosis that was present appeared superficial only. Furthermore, prion protein appeared to be co-expressed with betaA4 in the form of plaques. The patient therefore had evidence of sporadic Creutzfeldt-Jakob disease (CJD) in addition to meningeal melanoma and CLL. This case further illustrates the importance of employing prion protein immunohistochemistry in suspected cases of CJD, especially where the histology is atypical.- - - - - - - - - - ranking = 0.5keywords = cortex (Clic here for more details about this article) |
4/92. 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 = 0.5keywords = cortex (Clic here for more details about this article) |
5/92. Creutzfeldt-Jakob disease: magnetic resonance imaging findings.Rapidly progressive dementia in an adult with findings of bilateral, symmetric high signal intensity on T2-weighted sequences and normal findings on T1-weighted sequences predominantly in the deep grey matter is suggestive of Creutzfeldt-Jakob disease (CJD). The peripheral cortex may be involved, as it was in the present case. The absence of subcortical periventricular white matter high signal intensity suggests that symmetric high signal intensities within the basal ganglia and cortical grey matter are more likely to be due to a degenerative process rather than due to ischaemia, infection or tumour.- - - - - - - - - - ranking = 0.5keywords = cortex (Clic here for more details about this article) |
6/92. Creutzfeldt-Jakob disease with a novel four extra-repeat insertional mutation in the PrP gene.OBJECTIVE: To investigate the role of a short insertional mutation in the prion protein (PrP) gene (PRNP) in prion disease pathogenesis. BACKGROUND: The genetic forms of Creutzfeldt-Jakob disease (CJD) are associated with point or insertional mutations in PRNP. Whereas patients with five, six, seven, eight, and nine extra octapeptide repeats show an autosomal dominant pattern of inheritance and features of CJD, gerstmann-straussler-scheinker disease, or atypical dementia, patients with one, two, or four extra repeats have typical CJD and lack a family history of neurologic disorder. methods: A genetic, neuropathologic, and biochemical study was carried out in a 65-year-old patient with clinical features of sporadic CJD. RESULTS: A novel four extra-repeat insertional mutation of PRNP was found in the patient and in his 59-year-old healthy sister. The patient showed spongiosis, nerve cell loss, and gliosis associated with diffuse PrP immunoreactivity in the cerebral cortex, subcortical gray structures, and cerebellum. A peculiar aspect was the presence of focal PrP deposits in the basal ganglia and hypothalamus, superimposed to diffuse PrP immunoreactivity. The biochemical analysis revealed that both mutant and wild-type PrP participated in the pathologic process, and that the protease-resistant core of the altered PrP isoforms was distinct from that observed in sporadic, acquired, and other genetic forms of CJD. CONCLUSION: These findings support the view that the four extra-repeat insertion in PRNP is a pathogenic mutation with low penetrance rather than a benign polymorphism, and suggest that this mutation results in the formation of a distinct PrP conformer.- - - - - - - - - - ranking = 0.5keywords = cortex (Clic here for more details about this article) |
7/92. A case of sporadic Creutzfeldt-Jakob disease with both plaque and synaptic-type deposition of prion protein.We report a Japanese case of sporadic Creutzfeldt-Jakob disease (CJD) with particular clinical course and neuropathological findings. A 74-year-old female exhibited parkinsonism and later, dementia, myoclonus as well as visual hallucinations, lacking periodic synchronous discharges in the electroencephalogram. The duration of her illness was 2 years, longer than typical CJD cases which average 8 months' duration. Gray matter was severely affected, the Ammon's horn and subicular cortex were well preserved and many kuru plaques were observed in the cerebellum using routine histological stainings. immunohistochemistry for prion protein (PrP) using both formic acid and hydrolytic autoclaving pretreatment revealed numerous prion plaques throughout the brain together with intense synaptic-type deposition of PrPCJD (abnormal isoform of PrP) in all gray matter examined, particularly in the Ammon's horn and subicular cortex. The definite combination of these two types of stain has never been reported previously in japan other than in Gerstmann-Straussler-Scheinker syndrome. Relative resistance of the Ammon's horn and subicular cortex to the PrPCJD deposition is also discussed.- - - - - - - - - - ranking = 1.5keywords = cortex (Clic here for more details about this article) |
8/92. deafness: an unusual onset of genetic Creutzfeldt-Jakob disease.We describe a case of genetic Creutzfeldt-Jakob disease (CJD) with deafness at the onset. We report clinical features, 14-3-3 protein positivity, electroencephalography and brain stem auditory evoked potential abnormalities, and high signal on magnetic resonance imaging in basal ganglia and temporal cortex. Similarities with CJD Heidenhain variant are discussed.- - - - - - - - - - ranking = 0.5keywords = cortex (Clic here for more details about this article) |
9/92. Familial Creutzfeldt-Jakob disease with a novel 120-bp insertion in the prion protein gene.The clinical course, neuropathological features, and genetic findings in 3 members of a German family carrying a novel 120-bp insertion in the prion protein (PrP) gene are described. Genetic analysis of the mutated allele revealed a sequence of five extra octapeptide repeats, distinct from those of the two previously reported families with an insertion of this size. There was distinctive variation in the clinical course and the onset and duration of the illness in the documented subjects. Neuopathological evaluation showed neuronal loss and gliosis in the neocortex of the 3 examined cases; spongiform degeneration was found in 2 of them. PrP immunoreactivity of unusual morphology and distinct distribution was present in the cerebellem and neocortex ("blurred staining") of 2 examined cases. One subject showed features usually found in sporadic Creutzfeldt-Jacob disease with a punctate type of PrP deposition in the cerebellum. In addition, there were some plaque-like PrP aggregates morophologically similar to the other 2 cases in the molecular layer of the cerebellum, and unusual Prp immunoreactivity ("fleecy staining") was found in the neocortex. The clinicopathological heterogeneity in the documented family is in accordance with the phenotypic variability associated with previously reported insertions.- - - - - - - - - - ranking = 1.5keywords = cortex (Clic here for more details about this article) |
10/92. diffusion-weighted MRI in two cases of familial Creutzfeldt--Jakob disease.diffusion-weighted magnetic resonance imaging (DWI) has been described as a useful tool for the diagnosis of sporadic Creutzfeldt--Jakob disease (CJD). To our knowledge, DWI abnormalities have not previously been reported in familial CJD. In two patients with familial CJD associated with distinct mutations at codon 183 and at codon 210 of the prion protein gene, DWI showed a high signal in the basal ganglia and in the cerebral cortex. These abnormalities are similar to those described in sporadic CJD. This observation expands the value of DWI for the diagnosis of some forms of familial CJD. It remains to be investigated whether this finding also holds for CJD associated with other mutations of the prion protein gene.- - - - - - - - - - ranking = 0.5keywords = cortex (Clic here for more details about this article) |
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