1/15. Creutzfeldt-Jakob disease with congophilic kuru plaques: CT and pathological findings of the cerebral white matter. In a patient whose Creutzfeldt-Jakob disease with congophilic kuru plaques that was proved at necropsy, the early brain CT showed low-density areas in the cerebral white matter before cortical atrophy and ventricular enlargement became apparent. Subsequently, there occurred diffuse white matter lucency and severe brain atrophy. At necropsy, there was severe white matter destruction which was more prominent than cortical neuronal loss. Serial CT scans were of great value for demonstrating the early and predominant changes in the cerebral white matter. ( info) |
2/15. Long-duration sCJD with PRNP codon 129 methionine homozygosity and cerebral cortical plaques. The authors investigated a 40-year-old woman who presented with ataxia and dementia with little progression for over 40 months. The results of a CSF 14-3-3 protein and EEG study did not reveal major abnormalities. brain MRI showed increased signal intensity over the occipital cortex in diffusion-weighted imaging. To our knowledge, this is the longest MM-type sporadic Creutzfeldt-Jakob disease case with cortical kuru-type plaques. ( info) |
3/15. 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. ( info) |
4/15. 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. ( info) |
| 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. ( info) |
6/15. An autopsy case of Creutzfeldt-Jakob disease with kuru-like neuropathological changes. An autopsy case of Creutzfeldt-Jakob disease with kuru-like neuropathological changes which revealed clinically extrapyramidal, pyramidal and psychic symptoms is presented in this report. On microscopic examination, status spongiosus, neuronal degeneration, proliferation of hypertrophic astrocytes and numerous plaques were observed in the cerebrum and cerebellum accompanied with widespread demyelinization. These plaques which suggested kuru plaques measuring 10 to 60 micron were strongly PAS positive and had a dense central core surrounded by a halo of fine radially arranged fibrils. As for the relationship between Creutzfeldt-Jakob disease and kuru, the significance of these morphological changes is discussed. ( info) |
7/15. 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. ( info) |
8/15. kuru plaques in the brain of two cases with Creutzfeldt-Jakob disease. A common origin for the two diseases? We present two patients aged 66 and 69, with a rapidly progressive disease (10 and 15 months' duration) in which the presenting symptom was instability of gait. Later dementia was also a prominent feature. One case had myoclonus. Repeated EEGs showed symmetrical slowing in one case and periodic generalised bursts of triphasic waves at 1 cps superimposed upon a slow (3-4 cps) background activity in the other. The pathological findings consisted of classical Creutzfeld-Jakob disease (CJD), kuru plaques (KP) were disseminated in the brain, but were more numerous in the cerebellum, putamen and thalamus. neurons with large vacuoles in the cytoplasm were numerous in the putamen, thalamus and anterior horns. Stress is laid upon the common findings in both CJD and kuru (K) (clinical features, pathological data, lack of antibody response, transmissibility, change in pattern on transmission). The possibility of a common origin of the two diseases is discussed. ( info) |
| A family with gerstmann-straussler-scheinker disease had coincidental clinical onset in three members of two generations, a phenomenon suggesting a common source of a transmissible agent. A regular dietary supplement in this family was home-bred rabbit. The clinical picture, although generally similar to that in previous accounts, included the unusual findings of visual loss (one patient) and sensory loss (one patient), and dementia was not apparent until late in the illness in two patients. Pathological examination of a cerebellar cortical biopsy specimen from one patient and postmortem tissue from two patients revealed multicentric amyloid plaques located in cerebral and cerebellar cortex, basal ganglia, and white matter with degeneration of corticospinal, dorsal spinocerebellar, dentatorubral, and geniculocalcarine tracts and dorsal columns. Spongiform change was focal and confined to the superficial cerebral cortical layers. ( info) |
10/15. 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. ( info) |