1/8. autopsy case of Creutzfeldt-Jakob disease with Met/Val heterozygosity at codon 129 and type 1 protease-resistant prion protein presenting some florid-type plaques and many kuru plaques in the cerebellum.We report an atypical case of CJD. The clinical course was similar to a classic CJD phenotype, but histopathological study revealed several florid-type plaques in the amygdale and abundant kuru plaques in the cerebellum that are atypical of classic CJD. Molecular analysis showed methionine/valine heterozygosity at codon 129 and no pathogenic mutation in the coding region of the prion protein gene. Western immunoblots revealed type 1 protease-resistant prion protein (PrPres), and a ration analysis of PrPres showed a high ratio of the diglycosylated form and a low ratio of the non-glycosylated form. Our case could not be precisely classified in any of Parchi's six variants. It suggests the existence of some factors that determine the phenotypic variability other than the codon 129 genotypes in the PrP gene or the physicochemical properties of PrPres.- - - - - - - - - - ranking = 1keywords = variant (Clic here for more details about this article) |
2/8. Clinical significance of types of cerebellar amyloid plaques in human spongiform encephalopathies.We report three patients with both spongiform encephalopathy and cerebellar amyloid plaques; one showed kuru-like plaques and was diagnosed as having Creutzfeldt-Jakob disease (CJD), and two had multicentric plaques and were diagnosed as having gerstmann-straussler-scheinker disease (GSSD). Evaluation of these cases and review of others previously reported suggests a clinicopathologic correlation between type of cerebellar plaque and neurologic clinical course. CJD patients who showed kuru-like plaques generally had disease with early onset (average age, 49.1 years) and long duration (average, 34 months), as compared with CJD patients without kuru-like plaques. GSSD patients usually had multicentric cerebellar plaques, and cases were usually familial, had early age of onset (average, 42.7 years), and were of long duration (average, 73 months). myoclonus was infrequent in GSSD patients and pathologically spongiform change was minimal; spinal tract degeneration was common.- - - - - - - - - - ranking = 287060.13206576keywords = spongiform encephalopathy, spongiform, encephalopathy (Clic here for more details about this article) |
3/8. gerstmann-straussler-scheinker disease: immunohistological and experimental studies.The older brother of the patient from whom the Fukuoka-1 strain was isolated was found to have numerous kuru plaques, the main finding common to both siblings. Other clinicopathological features including spongiform change were absent in the older brother. Immunostaining using anti-kuru plaque core protein and anti-beta-protein peptide revealed many kuru plaques and a few senile plaques in the older brother. Experimental transmission of the disease to laboratory animals was successful, using tissues from both siblings, through inoculation of fresh brain homogenates, purified prion protein, and formalin-fixed brain homogenates. Prion protein fractions from the patient's brain shortened the incubation periods and formalin-fixed mouse brains did not lengthen the periods. The disease in the two brothers can be classified as gerstmann-straussler-scheinker disease, a familial variant of Creutzfeldt-Jakob disease. gerstmann-straussler-scheinker disease manifests a variety of clinicopathological features. Immunohistological verification of kuru plaques has major diagnostic value in assessing dementia.- - - - - - - - - - ranking = 15668.115883867keywords = spongiform, variant (Clic here for more details about this article) |
4/8. Cerebellar plaques in familial Alzheimer's disease (Gerstmann-Straussler-Scheinker variant?).A large kindred, with two brothers coming to autopsy, of a syndrome consisting of ataxia, dementia, and some Parkinsonian features is reported; inheritance appears to be autosomal dominant. Neuropathologically, there were plaques and neurofibrillary tangles in the cerebral cortex as well as some in the basal ganglia, particularly reminiscent of the plaques seen in kuru; there was only minimal spinal cord disease (pyramidal tract field). The problems of classifying this condition--Alzheimer's disease with cerebellar involvement or other entities, such as the Gerstmann-Straussler-Scheinker condition (1936), especially now that transmission to animals in the latter has been reported--are discussed. Some relevant theoretical considerations derived from animal work, particularly in scrapie, are also reviewed.- - - - - - - - - - ranking = 4keywords = variant (Clic here for more details about this article) |
5/8. A clinico-pathological study of a case of kuru.kuru was diagnosed in a 42-year-old Melanesian male from the Eastern Highlands Province of papua new guinea. The clinical features indicated predominant cerebellar degeneration together with widespread cortical neuronal dysfunction and involvement of the diencephalon, hippocampus and basal ganglia. dementia was an early and prominent feature. The duration of clinical illness was about 12 months and atypically he spent the last 7 months in hospital allowing continuous assessment. At autopsy, spongiform encephalopathy was demonstrated, and inoculation of brain tissue into 4 squirrel monkeys and 1 capuchin monkey resulted in the development of kuru. This is the longest continuous study of kuru in a hospital setting to be recorded in the adult human subject. The virus isolated from the brain of this patient has been adopted as a standard reference strain of kuru for future use and repository.- - - - - - - - - - ranking = 208724.55264643keywords = spongiform encephalopathy, spongiform, encephalopathy (Clic here for more details about this article) |
6/8. A transmissible subacute spongiform encephalopathy in a visitor to the eastern highlands of New Guinea.A Caucasian male, clinically ill with a respiratory disease, visited the Eastern Highlands of New Guinea (endemic for kuru in the Fore people) and developed subacute spongiform encephalopathy (Jakob-Creutzfeldt disease) ten weeks later, from which he subsequently died. brain material was inoculated intracranially into squirrel monkeys, and several of them developed a spongiform encephalopathy. Monkeys that received control material (normal brain) were normal. Electronmicroscopic features in affected brain tissue are described, and the question of a relationship between Jakob-Creutzfeldt disease and kuru is considered.- - - - - - - - - - ranking = 1252347.3158786keywords = spongiform encephalopathy, spongiform, encephalopathy (Clic here for more details about this article) |
7/8. pathology and immunocytochemistry of a kuru brain.We report here results of modern staining techniques including anti-prion protein (PrP) immunocytochemistry to a set of archival brain specimens of a 16 year-old male who died from kuru in 1967. brain suspensions transmitted disease to chimpanzees and New World monkeys. The PrP gene is homozygous for valine at the polymorphic codon 129. histology shows neuronal loss, spongiform change, and astrogliosis. Lesions are maximal in parasagittal and interhemispheric areas of frontal, central and parietal cortex, cingulate cortex, striatum, and thalamus, and are accentuated in middle and deep cerebral cortical layers. PrP accumulates as diffuse synaptic type deposits and mostly unicentric plaques. PrP deposition is maximal in parasagittal and interhemispheric areas of frontal, central and parietal cortex, cingulate cortex, basal ganglia, and cerebellar cortex. Plaques are prominent in the striatum, thalamus, and granular layer of cerebellar cortex. Meticulous examination reveals only rare "florid" plaques with surrounding vacuolation. We conclude that 1) pathology including immunomorphology of PrP deposition in this kuru brain is within the lesion spectrum of Creutzfeldt-Jakob disease although plaques are unusually prominent and widespread; 2) kuru does not share the neuropathological hallmarks of the new Creutzfeldt-Jakob disease variant recently reported in the UK and france; 3) topographic prominence of PrP deposition parallels that of spongiform change and/or astrogliosis.- - - - - - - - - - ranking = 31335.231767733keywords = spongiform, variant (Clic here for more details about this article) |
8/8. Creutzfeldt-Jakob disease with long duration and panencephalopathic lesions: molecular analysis of one case.A 49-year-old woman presented with isolated aphasia followed by dementia and ataxia with a duration of 4 years. Histopathologically there was panencephalic involvement, status spongiosus, and kuru-type plaques. Molecular analysis showed heterozygosity at codon 129 in the prion protein (PrP) gene, and type 2 protease-resistant PrP. The comparison between this case and those previously reported suggests that the panencephalopathic variant of Creutzfeldt-Jakob disease (CJD) is an aspecific end-stage condition displayed by most if not all CJD variants in individual patients with an unusually prolonged course.- - - - - - - - - - ranking = 2keywords = variant (Clic here for more details about this article) |