1/7. Prion dementia without characteristic pathology.Gerstmann-Straussler syndrome (GSS) was diagnosed in a family with presenile dementia by prion protein gene analysis. Extensive histological examination of the brain of an affected individual from this family showed no characteristic features of GSS or Creutzfeldt-Jakob disease (CJD). Thus "spongiform encephalopathy" (GSS or CJD) cannot always be excluded on neuropathological grounds in an individual dying of a dementing condition, and the true prevalence of these diseases is likely to be underestimated. Screening by prion protein gene analysis will help to determine the full clinical and neuropathological phenotype in familial cases. This observation may be relevant to the assessment of possible transmission of bovine spongiform encephalopathy to man.- - - - - - - - - - ranking = 1keywords = spongiform encephalopathy, spongiform, encephalopathy (Clic here for more details about this article) |
2/7. Familial dementia with PrP-positive amyloid plaques: a variant of Gerstmann-Straussler syndrome.We present a 22-year follow-up of a large and unusual kindred previously reported as familial Alzheimer's disease (FAD). However, detailed clinical and neuropathologic evaluation of family members and brain autopsy on another affected individual now make the diagnosis of FAD unlikely. Our patient, as well as members of this family, had numerous amyloid plaques and rare neurofibrillary tangles. These plaques were quite atypical for Alzheimer's disease (AD); many were quite large (up to 500 microns in diameter) and contained several amyloid cores, some with neuritic components. The plaques were present throughout the cerebral cortex and striatum, but not in the cerebellum. By electron microscopy, they had radiating star-shaped amyloid cores containing 8- to 10-nm fibrils, and a few dystrophic neurites. They were strongly immunoreactive with antiserum to prion protein but did not react with the antiserum to the amyloid A4 protein of AD. Although the cerebellum was uninvolved, this family appears to represent another clinical and neuropathologic variant of Gerstmann-Straussler syndrome.- - - - - - - - - - ranking = 1.9616199747678E-6keywords = variant (Clic here for more details about this article) |
3/7. diagnosis of Gerstmann-Straussler syndrome in familial dementia with prion protein gene analysis.The polymerase chain reaction was used to screen dna samples from 12 unrelated individuals with various familial dementias and ataxias for mutation in part of the prion protein (PrP) gene, an abnormality that occurs in individuals with the spongiform encephalopathies, Gerstmann-Straussler syndrome (GSS) and Creutzfeldt-Jakob disease. 2 members of a family in whom GSS was not previously suspected had a 0.15 kb insertion of similar size to that found in another kindred with pathologically proven spongiform encephalopathy. GSS may be more common than is currently realised; PrP gene analysis is potentially useful for diagnosis and genetic counselling in familial dementias and ataxias.- - - - - - - - - - ranking = 0.53535638534466keywords = spongiform encephalopathy, spongiform, encephalopathy (Clic here for more details about this article) |
4/7. 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 = 0.67678192672331keywords = spongiform encephalopathy, spongiform, encephalopathy (Clic here for more details about this article) |
5/7. 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 = 0.035356777668656keywords = spongiform, variant (Clic here for more details about this article) |
6/7. Gerstmann-Straussler-Scheinker's disease.Findings are reported in three members of a Japanese family with a chronic familial disease characterized by signs of marked cerebellar dysfunction, mild pyramidal and extrapyramidal dysfunction, and loss or decrease of the knee and ankle jerks. Although the clinical features suggested olivopontocerebellar atrophy, postmortem study of one patient with obvious dementia revealed massive multiform plaques of kuru type as well as multicentric, senile, and primitive types throughout the central nervous system, most prominent in the cerebellar and cerebral cortices and caudate nucleus. There was degeneration of the spinocerebellar and pyramidal tracts, posterior columns, superior cerebellar peduncles, cerebellar cortex, dentate nucleus, and vestibular nuclei as well as gliosis of the inferior colliculus and cerebellar foliar white matter. There were no cerebral spongiform changes, although slight spongy alteration without glial reaction was present. The clinical and neuropathological characteristics were consistent with those reported as Gerstmann-Straussler-Scheinker's disease in an Austrian family.- - - - - - - - - - ranking = 0.035356385344661keywords = spongiform (Clic here for more details about this article) |
7/7. 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 = 3keywords = spongiform encephalopathy, spongiform, encephalopathy (Clic here for more details about this article) |