1/7. Creutzfeldt-Jakob disease (CJD) in a case of suspected chronic heavy metal poisoning.We describe a patient who died of suspected heavy metal poisoning after a nine-month history of rapidly worsening dementia. autopsy at a forensic-pathological institute established the postmortem diagnosis of sporadic Creutzfeldt-Jakob disease (CJD) based on demonstration of the proteinase-resistant prion protein (PrPsSc) in Western-Blot on native brain tissue. Microscopic examination of the macroscopically largely inconspicuous brain revealed marked spongiform changes in the gray matter--mainly affecting the cerebral cortex, nucleus caudatus, and putamen--with confluent vacuoles. Patchy or perivacuolar deposits of PrPSc were found as well as granular PrPsc deposits. The cerebellum contained focal PrPsc deposits. There was an astrogliosis in the white matter and a proliferation of microglia in the gray matter with a simultaneous clear reduction in neuronal elements. The differential diagnosis is discussed, as is the potential risk to those performing autopsy on forensic cases with a clinical picture of rapidly progressing dementia, especially in cases where a prion disease is not initially suspected.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
2/7. A neuropsychological-neuropathological case study of variant Creutzfeldt-Jakob disease.We report the first neuropsychological-neuropathological case study of a patient with variant Creutzfeldt-Jakob disease (vCJD) who was seen at the early stages of the disease, and whose cognitive functioning was monitored in the following months until his death. At presentation, his neuropsychological profile included impaired ability to retain new episodic information, deficits on tests of retrieval from semantic memory, and impairments on tests of memory for public knowledge, such as famous personalities. Tests of executive function were also performed poorly. Picture recognition memory and autobiographical memory were relatively spared, as was performance on tests of face perception and complex copying ability. Neuropsychological testing may be useful in monitoring the progression of vCJD, and we provide evidence to show a steady rate of decline in perceptual and naming tasks over a 4-month period. Post-mortem findings showed neuronal loss in the caudate, putamen, dorsal thalamus, cerebellum and occipital cortex. Spongiform changes were found throughout the brain, including the entorhinal cortex and anterior thalamus. Prion protein accumulation was noted in the hippocampus. We hypothesize that primary subcortical damage to structures in the thalamus and neostriatum, together with secondary frontal lobe dysfunction, combine to yield the pattern of neuropsychological impairment and neuropsychological sparing that was found.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
3/7. Extensive cortical damage in a case of Creutzfeldt-Jacob disease: clinicoradiological correlations.MRI demonstrated extensive cortical involvement in a patient with pathologically proven Creutzfeldt-Jacob disease. The whole brain was atrophic; some of the supratentorial cortex, putamen and caudate nucleus gave high signal on T2-weighted images; the changes were more extensive on diffusion-weighted images (DWI). Comparison of the history, and the sites of atrophy and signal change suggested that the latter predominates in regions with long-lasting damage and prevalent gliosis, while high signal on DWI indicate current neuronal loss. This case widens the range of MRI findings in patients with Creutzfeldt-Jacob disease, and suggests that some information about the progression of the disease can be extracted from single MRI study.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
4/7. Combined diffusion-weighted and spectroscopic MR imaging in Creutzfeldt-Jakob disease.A 49-year-old woman presented with progressive dementia. diffusion-weighted MR images showed abnormalities in the cerebral cortex as well as the putamen and caudate head bilaterally. MR spectroscopic imaging revealed marked asymmetric decrease of normal metabolites in the right basal ganglia, with concordant hypoperfusion on single photon emission computed tomography. diffusion-weighted MR imaging is more sensitive to cortical involvement in sporadic Creutzfeldt-Jakob disease, and MR spectroscopy may yield evidence of asymmetric involvement. Combined functional and metabolic MR imaging may be useful in studying CJD.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
5/7. Loss of glycosylation associated with the T183A mutation in human prion disease.A heterozygous T183A mutation in the prion protein (PrP) gene, PRNP, was identified in a patient with histopathologically confirmed spongiform encephalopathy. Clinically, this form of prion disease was characterized by early-onset dementia as the predominant sign, along with global cerebral atrophy and hypometabolism. The age at onset was 40 years and the disease duration was 4 years. Additional neurological signs including cerebellar ataxia and EEG abnormalities were absent until late stages of the disease. The T183A mutation was not found in non-affected family members. This mutation results in the removal of one of the two consensus sites for glycosylation of PrP. Neuropathological examination revealed severe spongiform degeneration and neuronal loss in the neocortex, putamen and claustrum, small plaque-like PrP-immunoreactive deposits in the molecular layer of the cerebellum, and faint intracellular cytoplasmic PrP immunoreactivity. Western blot analysis of the patient's brain tissue showed protease K-resistant PrP with a definite preponderance of the monoglycosylated form. The additional appearance of a band representing diglycosylated PrPSc strongly suggests that non-mutated PrP also acquires protease resistance in the present setting. Cell culture experiments confirmed previous reports on intracellular retention of the mutant protein in vitro. This is the second report of a disease-causing T183A mutation of PrP, and the clinical, histological and genetic observations strongly suggest that T183A is a disease-causing mutation.- - - - - - - - - - ranking = 1keywords = putamen (Clic here for more details about this article) |
6/7. Sporadic onset Creutzfeldt-Jacob disease: interesting MRI observations.We describe a 60-year-old woman with "probable" sporadic Creutzfeldt-Jacob disease (CJD) who manifested with two months history of rapidly progressive dementia and abnormal behavior, speech and gait abnormality, excessive sleepiness and myoclonic jerks. scalp EEG showed diffuse slowing of background activity to delta range and triphasic sharp wave complexes occurring periodically twice in one-second interval. magnetic resonance imaging (MRI) of brain revealed high signal intensity on T2 weighted image (T2WI) and fluid attenuated inversion recovery sequences in the caudate and putamen bilaterally. diffusion weighted images showed bilateral symmetric hyperintense signals in the caudate and putamen. The role of MRI in the diagnosis of CJD is discussed.- - - - - - - - - - ranking = 2keywords = putamen (Clic here for more details about this article) |
7/7. 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.- - - - - - - - - - ranking = 2keywords = putamen (Clic here for more details about this article) |