Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0012833 (dizziness)
 9,689 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 56-year-old woman initially noticed dizziness in October, 1988, and later dementia and gait disturbance developed, associated with myoclonus and periodic synchronous discharge in the electroencephalogram. On the basis of these clinical findings we made a diagnosis of Creutzfeldt-Jakob disease (CJD). Using RIA for ubiquitin (signal peptide of the ATP dependent proteolytic system), we measured the cerebrospinal fluid (CSF) ubiquitin levels. The CSF level of ubiquitin was markedly elevated in this case five months after the initial symptoms (230.0 ng/ml) compared with normal values (14.3 +/- 1.1 ng/ml) and values in patients with senile dementia of Alzheimer type (21.3 +/- 6.1 ng/ml) and vascular dementia (16.6 +/- 6.4 ng/ml). With progression of brain atrophy in this case, CSF levels of ubiquitin rapidly decreased to near the normal values. These findings suggest that CSF ubiquitin concentration reflects the activity of the disease process in CJD, and it may be useful in the diagnosis of CJD.
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PMID:[A case of Creutzfeldt-Jakob disease with markedly elevated ubiquitin concentration in the cerebrospinal fluid]. 165 80

This chapter reports the clinical and neuropathological findings of eight cases of "diffuse Lewy body disease" verified by autopsy. The age at onset was between 60 and 82 years; the age at death was between 75 and 92 years. The initial symptoms were amnesia in three cases, orthostatic dizziness in three, visual hallucination in two, but parkinsonism in none. The cardinal clinical symptoms included dementia in all cases, hallucinatory-delusional state in six, akinesia and rigidity in five, and orthostatic hypotension in five. Antemortem diagnoses were senile dementia in five, and hallucinatory-delusional state, Parkinson's disease and Shy-Drager syndrome in one each. Despite the clinical symptoms differences from each other, neuropathological findings were alike. Abundant Lewy bodies were present in the neurons of the cerebral cortex as well as in the brainstem nuclei and diencephalon. Concomitant senile changes including senile plaques and Alzheimer's neurofibrillary tangles (NFTs) were also present in varying degree. Immunocytochemical study with anti-ubiquitin for Lewy body, anti-tau protein for NFT, and beta-protein of amyloid for senile plaque suggested that dementia of DLBD might have resulted not from a single pathology but from the complex of Lewy bodies, NFTs and senile plaques.
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PMID:Clinical and neuropathological aspects of diffuse Lewy body disease in the elderly. 842 Jan 71

Woozy (wz) mice develop ataxia and carry a mutation in the Sil1 gene. Homozygous wz mice have been characterized histopathologically, but no details of their motor function have been reported. In the present study, to comprehensively understand the relationship between symptomatic progression and pathological feature, we evaluated motor function and neurodegeneration with age from presymptomatic to terminal stages. We evaluated the motor function of homozygous and heterozygous wz mice aged from 5 to 71 weeks. Motor function was evaluated using the rotarod test, the footprint test, and the parallel rod floor test. Furthermore, we carried out a histopathological analysis of the mice at several ages. Impairment of motor function in homozygous wz mice began at around 11 weeks of age and became markedly worse until around 14 weeks. Heterozygous wz mice did not show motor dysfunction until 71 weeks of age. Features of cerebellar ataxia were evaluated using the footprint test and the parallel rod floor test. In addition to the observation of ubiquitin-positive aggregates at 6 weeks of age, Purkinje cell loss at 9 weeks of age and cerebellar atrophy were confirmed by histopathology. Apart from the cerebellar changes, we detected no other pathology that could contribute toward ataxia. In heterozygous wz mice, only minimal formation of ubiquitin-positive aggregates was observed. Homozygous wz mice showed adult-onset ataxia with progressive neurodegeneration of the cerebellum. Homozygous wz mice might be useful as an animal model of diseases showing adult-onset ataxia because of cerebellar neurodegeneration.
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PMID:Longitudinal analysis of motor symptoms and histopathology in woozy mice, a model of cerebellar ataxia. 2872 27

Neuronal intranuclear inclusion disease (NIID) is a rare and slowly progressing neurodegenerative disease characterized by the presence of eosinophilic intranuclear inclusions in the nervous system and multiple visceral organs. Sporadic NIID case was more frequently encountered than familial. In our study, we reported two adult-onset NIID patients from a family and described their clinical, imaging, and pathological features. The first patient was a 61-year-old man who only presented with non-specific headache and dizziness; however, Brain MRI with diffusion-weighted images (DWI) sequence showed high-intensity signal involving a small regional portion of corticomedullary junction in the frontal and parietal lobe. The older sister of former, a 64-year-old female, who developed sudden onset of weakness of the right limb was admitted to our neurology department. Compared with the first patient, similar DWI high-intensity signal but more extensive area in the corticomedullary junction was found in her brain MRI examination, also prominent leukoencephalopathy in T2-weighted image. Significantly, skin pathology of the first patient showed that typical inclusions with strongly positive P62 and ubiquitin antibody could be seen in the nuclei of sweat gland cells, adipocytes, and fibroblasts. FMR1 gene was negative. Although rare, adult-onset NIID should be considered when the characteristic radiology changes of high intensity signal involving the corticomedullary junction in the brain DWI sequence was found. In addition, the pathological result of skin biopsy combined with negative genetic testing FMR1 or NOTCH2NLC can contribute to the accurate diagnosis of the disease. This article aims to improve the radiologists' knowledge of NIID by our cases presentation and reviewing literature.
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PMID:Neuronal intranuclear inclusion disease: two case report and literature review. 3283 83