Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0032285 (pneumonia)
 54,520 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe an elderly patient with probable Alzheimer's disease whose EEG and clinical status improved rapidly coincident with normalization of temperature. This finding suggests that her transient illness, of fever, pneumonia and confusional state, triggered the production of this periodic EEG pattern. With the increased prevalence of dementia in our aging population, we predict that the appearance of a multifocal periodic triphasic sharp wave pattern in the EEG of chronically demented patients (with superimposed infection) will become more common. Only when this pattern persists over time and the patient is not systemically ill, is this pattern a reliable discriminator for CJD. Serial EEGs in this setting (after treatment of the systemic illness) might reveal the transient nature of the periodic EEG change, thus avoiding the erroneous conclusion that the patient's dementia is a manifestation of CJD.
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PMID:Transient appearance of periodic EEG discharges in senile dementia. 203 43

An adolescent girl with idiopathic hypothalamic dysfunction and hypopituitarism was treated with human growth hormone between 1969 and 1979, dying of parainfluenza pneumonia 2 months after her last hormone treatment. Although she had no signs of progressive neurologic disease, reexamination of autopsy material revealed a focus of spongiform change and astrogliosis in the corpus striatum. Thus, this growth hormone recipient, who died of intercurrent infection, was unexpectedly found to be in an early, preclinical phase of Creutzfeldt-Jakob disease.
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PMID:Preclinical Creutzfeldt-Jakob disease discovered at autopsy in a human growth hormone recipient. 329 Jul 4

Ultrastructural studies of spongiform encephalopathy (SE) reveal no very early pathological changes in kuru where membrane lamellation has been reported. This observation is challenged. In the later stages of SE, two main theories are examined--the spiroplasma theory and the prion (6 nm filament) theory. Neither are sufficiently convincing at present. In my own ultrastudies of Creutzfeldt-Jakob disease brain, extensive dismantling of the dendritic microtubule cytoskeleton has been observed. Loss of dendritic cytoskeleton implies loss of dendritic cytotransport with abolition of postsynaptic events. This would explain neurological symptoms and death where other causes, pneumonia etc. are not involved. My experimental model, involving depletion or loss of dendritic microtubules, indicates that spongy vacuoles may be fixation artifacts. In a brief consideration of Alzheimer's disease, loss of dendritic microtubules has also been observed, with the implications mentioned above. Finally, the neuritic plaque will be considered.
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PMID:Spongiform encephalopathy: a neurocytologist's viewpoint with a note on Alzheimer's disease. 352 Mar 70

An autopsied case of Creutzfeldt-Jakob disease is reported. A 79-year-old Japanese female showed extrapyramidal sign (resting tremor, and rigidity) and dementia. She developed myoclonus and became akinetic within one year from the onset, and then died of pneumonia at age of 81. None of the members of her family had neuromuscular disorders. CT and MRI studies revealed progressive brain atrophy. Consecutive study of EEG did not reveal periodic synchronous discharges (PSD). Codon 129 polymorphism (Met/Val) and codon 180 point mutation (Val/Ile) were detected. The autopsy revealed spongiform change of cerebral cortex and negative Kuru plaques, confirming the diagnosis of Creutzfeldt-Jakob disease. Immunohistochemical study revealed weak synaptic prion staining. Western blot analysis showed positive Proteinase K resistant prion protein. Gene analysis of autopsied brain showed the same prion DNA polymorphism and mutation. The combination of codon 129 polymorphism and 180 point mutation might associate with an atypical clinical form of CJD, which shows the extrapyramidal signs at the onset, and negative PSD in EEG.
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PMID:[An autopsy-verified case of Creutzfeldt-Jakob disease with codon 129 polymorphism and codon 180 point mutation]. 761 52

A 72-year-old man developed a sudden weakness in his left hand on October 5, 1991. He was admitted two weeks thereafter. Physical examination revealed minimal weakness, and clumsiness of the fingers on his left hand. Exaggerated tendon reflexes and spasticity were also noted only on his left upper limb. He had neither dementia nor psychiatric symptoms. Subsequently he developed weakness in his left leg on November 17. Within 12 days he developed left facial weakness, and myoclonic movements on the left side. By December 2, he developed spastic tetraparesis with bilateral facial palsy, and generalized myoclonic jerks. A few days after that he started to show decorticate posture. From December 16, his mental status deteriorated rapidly, and he became mute, and uncooperative within a week. His clinical course can be summarized as stepwise progression similar to a cerebrovascular accident. Electroencephalography was normal on admission, but periodic synchronous discharge developed in January 1992. Brain CT that showed only mild brain atrophy at first was considered to be compatible with his age, changed to have severe brain atrophy in March 1992. He died of pneumonia on May 24, 1992 after eight months of progressive clinical course. Autopsy was done. The brain weighed 930 grams. Macroscopically there was prominent cortical atrophy. Microscopic examination revealed severe spongy state throughout the cerebral cortex. Typical spongiform changes were confined to the hippocampus. The cerebral white matter appeared to be normal. In the cerebellar cortex, the granular cell layer disappeared and Purkinje's cells were reduced in number. Kuru plaques were not seen. The cerebellar white matter, dentate nucleus, and brainstem seemed to be normal. The spinal cord was not examined. There were no pathological changes to indicate cerebrovascular accident, except for a lacuna in the right basal ganglion and a small angionecrosis in the pons. Western blotting test using Anti-APC (amyloid plaque core) antibody was positive. Neuropathological changes of the present case were consistent with those of CJD. However, the sudden onset of monoparesis without dementia or ataxia is rare as the initial symptom of this disease. The subsequent clinical course with stepwise progression of hemiplegia, which was mimicking a progressive stroke, was also rare for CJD. In comparison to typical case of CJD, this case had a different clinical onset as acute monoparesis. We can find such cases of CJD presenting as stroke in 5.6% in the previous English literatures.
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PMID:[A case of Creutzfeldt-Jakob disease (CJD) started with monoparesis of the left arm]. 904 57

A 45 year old woman is reported who initially presented with a cerebellar syndrome, severe ataxia, and dysarthria. She rapidly deteriorated to coma vigile with bilateral myoclonic jerks, flexion rigidity, and immobility necessitating complete nursing. Her EEG showed generalised slow activity and periodic biphasic and triphasic waves. The CSF concentration of neuron specific enolase was very high. Consequently the diagnosis of Creutzfeldt-Jakob disease was established. Eight months later she died of respiratory complications. Thirty years earlier the patient had undergone corneal transplantation for keratoconus. Review of the organ donor's hospital records showed that death was caused by intercurrent pneumonia subsequent to subacute spongiform encephalopathy confirmed by necropsy. In view of two previous case reports in the literature it is presumed that the cadaveric cornea was the source of transmission of Creutzfeldt-Jakob disease in this patient.
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PMID:Transmission of Creutzfeldt-Jakob disease via a corneal transplant. 932 61

A 68-year-old man was hospitalized on 24 June, 1998 because of visual and gait disturbance. A month before admission, he had been aware of blurred or double vision while watching TV. A few days later, he developed dysphagia and clumsiness in the fingers. His gait became unstable and he exhibited restless finger movements. His shoulders and trunk showed torsion while walking. On admission, he became disoriented and showed rigidity in the legs and athetosis in the bilateral fingers. Routine laboratory findings, thyroid function data, and the serum levels of vitamin B1, B12, Cu, and ceruloplasmin were within the normal ranges. Periodic synchronous discharges (PSD) were observed on electroencephalography. MRI showed T2-high intensity and atrophy of the bilateral caudate nucleus and putamen in addition to the cerebral cortex. 99mTc-ECD-SPECT showed a decrease of local blood flow in the bilateral frontal, right temporal, and bilateral parietal lobes and bilateral thalami. Athetosis became exacerbated and was observed for a month, overlapping with myoclonus. We diagnosed the patient as having CJD because of progressive dementia, myoclonus and PSD. Analysis of the prion protein revealed that codon 129 was Met/Met and codon 219 Glu/Glu by DNA sequences. The patient developed akinetic mutism and rigid contracture, and died of pneumonia on 5 September, 1998. Because athetosis is thought to involve the bilateral caudate nucleus, putamen and thalamus, the findings of diagnostic imaging in this patient might be relative to the clinical symptoms.
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PMID:[A case of Creutzfeldt-Jakob disease exhibiting athetosis in the early stage]. 1055 90

We present an autopsied case which developed progressive dementia at the age of 45. EEGs showed periodic synchronous discharges (PSD) when he showed fluctuated cloudy consciousness with myoclonus. Cerebrospinal fluid examination showed mild to moderate increase in protein and monocytes for duration of illness, but antivirotics and antibiotics were not effective. He was not apallic even at the terminal stage when computed tomography (CT) revealed marked cerebral atrophy, and died of pneumonia 27 months after onset. He was clinically diagnosed as having Creutzfeldt-Jakob disease (CJD) because of subacute progressive dementia, myoclonus and PSD. Neuropathological examination revealed marked brain atrophy with severe neuronal loss and gliosis in the cerebral cortex and subcortical nuclei, although no spongiform degeneration was found. Senile plaques, neurofibrillaly tangles, argyrophilic glial inclusions and glial nodules were not detected. Prion protein immunoreactivity was negative. Therefore, this case can not be neuropathologically diagnosed as having CJD, Alzheimer's disease, non-Alzheimer-type degenerative dementias or any encephalitis. This case might have suffered from an unknown new disease.
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PMID:[An autopsied case of subacute progressive dementia with flactuated disturbance of consciousness, myoclonus and periodic synchronous discharges on EEGs]. 1058 14

We report an 80-year-old Japanese man with histologically-diagnosed Creutzfeldt-Jakob disease (CJD). The patient was admitted to our neurological unit because of sudden onset motor aphasia-like symptoms and right hemiparesis. His medical and family histories were unremarkable, and he had taken no medications. Urine, blood counts and blood chemistry were all within normal limits. Cerebrospinal fluid was normal except for elevation of neuron specific enolase (29.9 ng/ml). High-signal intensity was demonstrated in the cortex of the left temporal lobe on T2-weighted MRI images, and the lesion swelled during the initial stage of the disease. There was no enhancement with Gd-DTPA. Serial MRI showed that the high-signal lesion had spread into the bilateral cerebral cortex. The patient developed myoclonus followed by akinetic mutism within 6 months of onset. Consecutive EEGs revealed no periodic synchronous discharge (PSD). He died of pneumonia 21 months after of admission. Autopsy revealed spongiform changes in the cerebral cortex with Kuru plaques, confirming the diagnosis of CJD. The Cerebellar cortex was well preserved. The high-signal lesions corresponded to the spongiform changes in the cerebral cortex. Immunohistochemical analysis showed weak synaptic prion staining. Prion protein (PrP) gene analysis of genomic DNA isolated from the autopsied brain by polymerase chain reaction, the restriction fragment length polymorphisms, and direct sequencing revealed a point mutation (Val-->Ile) at codon 180 and a polymorphism (Met/Val) at codon 129 on different alleles. A few CJD patients with point mutations in codon 180 of the PrP gene have been reported. Combination of the codon 180 point mutation and codon 129 polymorphism may yield an atypical clinicopathological form of CJD that includes late onset, negative PSD, and atypical MRI findings, with preservation of the cerebellar cortex.
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PMID:[Clinicopathological characteristics of Creutzfeldt-Jakob disease with a PrP V180I mutation and M129V polymorphism on different alleles]. 1058 22

We describe a 67-year-old Japanese man with probable sporadic Creutzfeldt-Jakob disease (CJD) who had valine homozygosity at codon 129, a rarity in the Japanese. T2-weighted magnetic resonance imaging (MRI) detected high-intensity lesions in the bilateral middle cerebellar peduncles and basal ganglia as well as cerebellar and cortical atrophy. He developed cerebellar ataxia and subsequent mental deterioration, myoclonus, and periodic synchronous discharge as shown in an electroencephalogram. Cerebrospinal fluid examination showed a high level of neuron-specific enolase and a positive immunoassay for the 14-3-3 protein. He died of pneumonia 10 months after the initial symptoms appeared. Whether or not the genetic polymorphism increased his susceptibility to sporadic CJD is not clear because valine homozygosity at codon 129 is less than 1% in the normal Japanese population. Although there is no convincing evidence in the present case, the MRI findings of cerebellar peduncle changes, which are rare in CJD, suggest a kind of degeneration, demyelination, or both.
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PMID:Probable sporadic Creutzfeldt-Jakob disease with valine homozygosity at codon 129 and bilateral middle cerebellar peduncle lesions. 1263 43


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