Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The first autopsy of a case of multiple sclerosis from the District of Hokuriku was reported. The patient, a 50-year-old house-wife, born in Toyama Prefecture, had noticed a paresthesia of her face, fatigue, numbness and weakness in the right limbs, dimness of vision and gait disturbance at ave 44. Furthermore, in the course of the disease, she had suffered from visual disorder, tetraplegia, hyperreflexia, pyramidal signs and cerebellar syndroms such as dysarthria, nystagmus, intention tremor and ataxia. She also showed symptoms of euphoria and dementia. After a course of six years she died of bronchopneumonia. Remissions and exacerbations were noted four times during her clinical history. Histopathologically, there were many recent and old demyelinating lesions of varying sizes and shapes in all parts of the central nervous system, namely the cerebrum, brainstem, spinal cord and optic nerve. In contrast to the clinical symptoms, the cerebellum itself revealed less plaques than the other areas of the brain. According to the observed distributions of the lesions, our case can be classified as belonging to the optico-cerebro-spinal type in the Ikuta and Zimmerman classification. The demyelinated lesions were characterized by a perivenular distribution of the plaques, lack of tissue necrosis, paucity of inflammatory reaction and marked fibrous gliosis of varying degrees.
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PMID:First autopsy report of a multiple sclerosis case in Hokuriku District of Japan. 53 38

Case S.S. 59 years of age, male. At the age of 25, he had admitted to sanatorium for 7 years because of pulmonary tuberculosis. After his discharge, at the age of 45, he had started complaining of depressive mood or the idea of suicide and admitted to a mental hospital. Psychiatric diagnosis was depression and slight mental retardation. Shortly after, his depressive mood was improved, but his hypochondriac attitude was unchanged. No tendency toward dementia was proven. At the age of 54, he became enable to walk. Neurologically, pyramidal and some sort of extrapyramidal signs, dysarthria, disturbance of swallowing, fecal and urinary incontinence became apparent. Laboratory data showed scarcely any abnormality. At the age of 59, he died of bronchopneumonia. Neuropathologically, moderate degeneration of dentate nucleus, slight degeneration of pyramidal tract from medulla oblongata to spinal cord, striatum, substantia nigra were found. Neither senile plaques nor neurofibrillary changes could be seen throughout central nervous system. The most important finding is the presence of peculiar acidophilic bodies. They are round or oval, 10 approximately 20 mu in diameter and distributed in dentate nucleus, oculomotor nucleus, central grey of midbrain, superior colliculus, putamen, pallidum, subthalamic nucleus, Zona incerta, hypothalamus, Locus coeruleus, reticular formation of midbrain and pons, pontine nucleus, raphe nucleus, vestibular nucleus, inferior olive in order of number of the bodies. These bodies are scattered in so-called ground substance, and have no relations to any cell bodies or cell processes.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An autopsy case with peculiar acidophilic bodies in the dentate nucleus and brain stem, associated with degeneration of the pyramidal-extrapyramidal systems]. 241 58

Case report of a 7 1/2-year-old girl considered as being normal until the age of 2 years. From then on she progressed with gait disturbance, mental deterioration, dystonic movements, convulsions and dysarthria. She died of bronchopneumonia one year later. CT scan showed hyperdensity at the putamen, with no signs of cerebral atrophy. Pathological examination disclosed an intense red coloration of the putamen and axonal "spheroids" at electron microscopy.
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PMID:"Hallervorden-Spatz syndrome--infantile neuroaxonal dystrophy" complex. Case report. 340 85

Atypical forms of progressive multifocal leukoencephalopathy (PML) may simulate other disorders. A previously healthy 70-year-old female developed unsteadiness of gait, dysarthria, dementia and weakness leading to inanition and death from bronchopneumonia over a 43 month period. The diagnosis of PML was not suspected prior to death. Neuropathologic examination of the brain disclosed characteristic findings of PML-deep bilateral cerebral demyelinative foci with enlarged gemistocytic astrocytes and swollen oligodendrocytes containing intranuclear inclusions. Electron microscopy identified papova virus particles within these inclusions. An underlying source of immunosuppression was not identified either premortem nor at the time of autopsy. The prolonged clinical course, simulating that of a primary degenerative disease, and the lack of apparent immunocompromise are unusual features of PML and lend credence to the suggestions that variations in its expression and course are to be expected.
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PMID:Prolonged progressive multifocal leukoencephalopathy without immunosuppression. 369 Apr 32

A 46-year-old man developed sudden dysarthria and atactic gait and was noted to be unable to get up even on the bed about one year prior to his death. By following several days, he started to have scanning speech, nausea, trancal ataxia and dysmetria in succession. The cerebro-spinal fluid yielded moderate pleocytosis. There were no sensory disturbance, pathological reflexes and Romberg's sign. Half a year later, submandibular tumor was noted. The biopsy showed metastatic small cell undifferentiated carcinoma, presumably of pulmonary origin, and paraneoplastic cerebellar degeneration was suspected. He died of bronchopneumonia, superimposed on lung cancer on February 25 in 1979. The necropsy showed a large tumor in the right lung which was histologically verified small cell undifferentiated carcinoma (so-called oat-cell carcinoma). The cerebellum disclosed diffuse cortical atrophy, chiefly of Purkinje cell type. Moderate demyelination with reparative gliosis and foamy macrophages was seen in the white matter, which was considered secondary to cortical devastation. The morphometric study on Purkinje cell loss showed interesting distribution of the lesions. The severely affected portions were the central lobe and culmen in the vermis, and the ala lobuli centralis and quadrangular lobe in the hemisphere, respectively. The lingula was strikingly spared. The finding was compared with that of other cerebellar disease in reviewing the literature.
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PMID:[An autopsy case of carcinomatous subacute cerebellar degeneration--on distribution of cerebellar cortical lesions]. 609 6

A case of rhabdomyolysis after a possible viral infection and the use of a cold medication is reported. A 41-year-old man who presented with dysarthria, dysphagia, progressive weakness of his muscles and a high grade fever was admitted. He suffered from massive rhabdomyolysis, acute renal failure, and bronchopneumonia. Hemodialysis, antibiotics, and hydration therapy were effective in the treatment of his illness. Although the cause of the rhabdomyolysis was not completely clear, he was subsequently shown to be susceptible to malignant hyperthermia (MH) based on the results of a caffeine-halothane contracture test. When a mild recurrence occurred during a follow-up muscle biopsy, intravenous dantrolene sodium was administered and he improved immediately. This case suggests that MH should be considered in patients with rhabdomyolysis when the cause is unclear. The caffeine-halothane contracture test may also be helpful in the diagnosis.
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PMID:Rhabdomyolysis after infection and taking a cold medicine in a patient who was susceptible to malignant hyperthermia. 955 May 99

We report an autopsy case of familial amyotrophic lateral sclerosis (FALS). The patient was a Japanese woman with hereditary burden. Family history revealed 12 patients with FALS over four generations. She developed muscle weakness of the proximal part of the upper extremities at age 42, followed by dysarthria, dysphagia, muscle weakness and atrophy in the lower extremities, spasticity, hyperreflexia and Babinski's sign. At age 44, she needed ventilatory support. At age 45, she died of bronchopneumonia. The total duration of the disease was three years and one month. Genetic study showed the absence of a mutation in the Cu/Zn superoxide dismutase-1 gene. Neuropathological examination revealed not only neuronal loss in the upper and lower motor neuron and Clarke's column, but also degeneration of the pyramidal tracts, middle root zone of the posterior column and posterior spinocerebellar tract. Bunina bodies and Lewy body-like inclusion bodies were absent. A few basophilic inclusion bodies were present in the neurons of the brain stem and anterior horn of the lumbar cord. Based on these clinical, genetic and pathological findings with a review of the literature, we concluded that our case was the first reported case of FALS with posterior column involvement and basophilic inclusion bodies.
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PMID:Familial amyotrophic lateral sclerosis with posterior column degeneration and basophilic inclusion bodies: a clinical, genetic and pathological study. 1132 97

We describe a 68-year-old woman who presented with falls, mild limb bradykinesia, axial rigidity, and a severe supranuclear gaze palsy, which failed to benefit from levodopa. She subsequently developed severe apraxia, progressive dysarthria, dysphagia, and a frontal cognitive impairment. Pyramidal weakness with fasciculations and widespread chronic partial denervation appeared shortly before her death from bronchopneumonia, 6 months after disease onset. A severe cerebral amyloid angiopathy diffusely involving the cerebral hemispheres and cerebellum was present at autopsy as well as a second pathological condition indicative of motor neurone disease. Cerebral amyloid angiopathy may rarely present with a progressive supranuclear palsy-like phenotype.
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PMID:Cerebral amyloid angiopathy and motor neurone disease presenting with a progressive supranuclear palsy-like syndrome. 1262 39

Central nervous system involvement in rheumatoid arthritis is infrequent. Inflammatory lesions described in the literature are limited to rheumatoid nodules and vasculitis. We report on a 71-year-old woman who presented with a 1-month history of headache and dysarthria, and who had suffered seropositive rheumatoid arthritis without extra-articular complications, for 15 years. Magnetic resonance imaging showed a high-intensity image in FLAIR-weighted sequences in the right cerebral hemisphere, with meningeal gadolinium enhancement. A brain biopsy revealed necrotizing and lymphocytic vasculitis in the meninges as well as cerebral parenchyma. The patient received treatment with high-dose intravenous methylprednisolone with radiological improvement at 6-month follow-up. She remained neurologically asymptomatic in subsequent years. Three years after the onset of neurological symptoms, she was admitted to the hospital with choluria and jaundice. On the fiftieth day of hospitalization, she died from bronchopneumonia. The autopsy showed no signs of vasculitis. Cerebral vasculitis is an infrequent complication in RA. High-doses of intravenous corticosteroids may be an effective treatment.
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PMID:Isolated cerebral vasculitis associated with rheumatoid arthritis. 2047 84

Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological deterioration and premature death, and has an estimated birth incidence of 1:120,000. Mutations in the NPC1 gene (in 95% of cases) and the NPC2 gene (in approximately 4% of cases) give rise to impaired intracellular lipid metabolism in a number of tissues, including the brain. Typical neurological manifestations include vertical supranuclear gaze palsy, saccadic eye movement abnormalities, cerebellar ataxia, dystonia, dysmetria, dysphagia and dysarthria. Oropharyngeal dysphagia can be particularly problematic as it can often lead to food or fluid aspiration and subsequent pneumonia. Epidemiological data suggest that bronchopneumonia subsequent to food or fluid aspiration is a major cause of mortality in NP-C and other neurodegenerative disorders. These findings indicate that a therapy capable of improving or stabilising swallowing function might reduce the risk of aspiration pneumonia, and could have a positive impact on patient survival. Miglustat, currently the only approved disease-specific therapy for NP-C in children and adults, has been shown to stabilise key neurological manifestations in NP-C, including dysphagia. In this article we present findings from a systematic literature review of published data on bronchopneumonia/aspiration pneumonia as a cause of death, and on the occurrence of dysphagia in NP-C and other neurodegenerative diseases. We then examine the potential links between dysphagia, aspiration, pneumonia and mortality with a view to assessing the possible effect of miglustat on patient lifespan.
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PMID:Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat. 2303 66


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