Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three patients suffering from presenile dementia and two patients suffering from senile dementia were treated with phthalazinol. A limited but definite improvement in attentiveness, vocabulary reception and psychologic attainment and also a limited but definite improvement in range of motion, gait and endurance were noted shortly after the treatment with phthalazinol and the progression of their dementia seemed to be temporarily retarded by phthalazinol. Seven patients suffering from parenchymatous cerebellar degeneration (late cortico-cerebellar atrophy) and four patients suffering from olivopontocerebellar atrophy were treated with phthalazinol. A relatively rapid, limited and sustained improvement of cerebellar functions, including those of speaking, writing and walking, was noted in almost all patients. Also, rigidity, akinetic tendency and abnormal posture seen in olivopontocerebellar atrophy fairly well responded to the treatment. Dysphagia, disturbance of micturition, and hypersecretion of saliva have also rapidly and completely disappeared in all cases. The cases with a long history responded relatively poorly, but the cases with a relatively short history responded quite strikingly to the therapy. No side effects were noted.
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PMID:Treatment of senile dementia and cerebellar disorders with phthalazinol. Cyclic AMP-increasing agent, phthalazinol, in therapeutic trials in hitherto incurable morbid conditions (I). 18 66

Four patients with sporadic olivopontocerebellar atrophy (OPCA) and severe signs of Parkinsonism received continuous subcutaneous lisuride infusion via a small external pump. All 4 patients benefitted from this treatment: 3 showed an overall improvement in motor performance, in 1 patient mainly dysphagia and dysarthria improved. Therapeutic benefit lasted for at least 6 months of follow up. With a daily dose of 1.0 mg subcutaneous lisuride, treatment limitations were reached in the form of dysphagia, probably due to oropharyngeal dystonia. Subcutaneous lisuride infusion should be taken into consideration in OPCA patients with signs of Parkinsonism if oral dopaminergic treatment has failed earlier on.
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PMID:Continuous subcutaneous lisuride infusion in OPCA. 146 93

Clinical, radiological and manometric studies on thirteen patients with olivopontocerebellar atrophy were performed in order to investigate the characteristics of dysphagia. As a clinical study, a detailed history of dysphagia was taken to distinguish two types of dysphagia, that is to say swallowing disturbance in a narrow sense and passage disturbance. In the radiological study, each phase of swallowing was observed by X-rays with contrast medium (Dionosil). In the manometric study, intraluminal resting pressure in the esophagus and pressure of esophageal contraction after swallowing were measured. The results were as follows: Eight patients had the sensation of swallowing disturbance in a narrow sense and five patients has the feeling of passage disturbance. In X-ray studies four patients had pooling in piriformis sinus and six patients had slight dilatation of the lower esophagus. In manometric studies, six patients had low intraluminal resting pressure of the upper esophageal sphincter, but almost all patients had normal intraluminal resting pressure throughout the esophagus and in the lower esophageal sphincter. Two patients, who had suffered for five and seven years, had loss of both negative and positive wave in the upper esophageal sphincter after swallowing. Another three patients, who had suffered for two, six and seven years, respectively had loss of negative wave in the upper esophageal sphincter after swallowing. Regarding peristaltic wave, eight patients had low amplitude of the wave. Two patients, who had suffered for five and six years, had diphasic shape of the wave. One patient, who had suffered for nine years, had synchronous wave. Nine patients had loss of negative wave in the lower esophageal sphincter.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Dysphagia in olivopontocerebellar atrophy]. 235 Sep 25

A sporadic case of spinocerebellar degeneration with prominent involvement of the motor system has recently been encountered. A 54-year-old man without family history noticed speech disturbance at the age of 46 and weakness in his right hand the following year. The muscle weakness and atrophy were slowly progressive and made walk impossible at the age of 50, when his dysphagia increased. At the age of 54, he was admitted to our hospital when neurological findings revealed marked amyotrophy of general skeletal muscle and tongue with fasciculation. Deep tendon reflexes were decreased. Cerebellar ataxia was impossible to evaluate because of profound muscle weakness. And sensory disturbance was suspected in the distal portion of the lower extremities. CT scan revealed progressive atrophy of the brain stem and cerebellum. The patient died at the age of 54 due to CO2 narcosis. The clinical course was 8 years. A summary of the pathological findings was as follows: 1) Marked neuronal loss of the anterior horn of the spinal cord and motor cranial nerve nuclei except for oculomotor nuclei, with mild degeneration of pyramidal tract below lumbosacral level. 2) Degeneration of cerebellipetal system, spinocerebellar tract, Clarke's column and the middle root zone and cerebellifugal system, dentate nucleus, superior cerebellar peduncles, and red nucleus. 3) Mild degeneration of pontine nuclei, inferior olivary nuclei, pontine transverse fibers, the middle and inferior cerebellar peduncles, cerebellar white matter and Purkinje cells as in OPCA.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A nosological study of a patient showing ataxia & lower motor neuron involvement]. 259 37

Because linkage has been reported between HLA and the locus for hereditary ataxia in some families, we studied a 3-generation kindred in which several individuals had dominantly inherited spinopontine atrophy. Affected family members had upper and lower limb ataxia, hypoactive reflexes, loss of proprioception, dysarthria, dysphagia, and pronounced extraocular movement abnormalities. Linkage analysis, based on 25 markers in 28 people, gave strongly negative results with both HLA (z less than -2.0 for theta less than 0.15) and GLO1 (z less than -2.0, theta less than or equal to 0.01). The highest LOD score was for linkage to GPT on chromosome 16 (z = 0.42, theta = 0.0). To assess the relationship between HLA linkage and phenotype, 4 published kindreds with adequate clinical and neuropathological descriptions were used for comparison to the present family. Persons in the 3 families showing evidence for HLA linkage had clinical and pathologic changes consistent with olivopontocerebellar atrophy, type 1. The conditions in the 2 "nonlinked" families were phenotypically distinct from the HLA-linked condition with respect to extraocular movement findings and peripheral sensory nervous system signs. They differed markedly from each other in neuropathologic changes.
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PMID:Linkage analysis in spinopontine atrophy: correlation of HLA linkage with phenotypic findings in hereditary ataxia. 347 98

Fifty-four cases of familial OPCA (FOPCA) and sixty-three cases of sporadic OPCA (SOPCA) have been gathered from the literature. The data concerning age at onset, duration of the disease, frequency of symptoms and the various localizations of lesions have been evaluated. In comparison with SOPCA, the disease begins earlier in FOPCA and lasts longer (P less than 0.001). The differences in the percentages of clinical manifestations and associated lesions are also significant with regard to the greater frequency in FOPCA of abnormal movements, ophthalmoplegia, spinal symptoms and lesions located in the dentate nucleus and spinal cord, except for the pyramidal tract. The clinical signs and symptoms are reviewed, special emphasis being given to dysphagia and urinary incontinence, their relevance having been underestimated in previous studies. After a critical analysis of the classifications in current use, I conclude that that of Greenfield (1954) remains the most appropriate.
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PMID:Olivopontocerebellar atrophy. A review of 117 cases. 705 12

Clinical, radiological and manometric studies on 27 patients with multiple system atrophy (MSA) were performed to investigate the characteristics of dysphagia. Patients of MSA were divided into 4 groups: 9 patients of OPCA I (duration < 5 years), 6 patients of OPCA II (duration > or = 5 years), 8 patients of SDS (duration < 5 years) and 4 patients of SND (duration < 5 years). A clinical history was taken to distinguish the two types of dysphagia, that is to say, swallowing disturbance in a narrow sense and passage disturbance. In the radiological study, each phase of swallowing was observed by X-rays with contrast medium (Dionosil). In the manometric study, intraluminal resting pressure in the esophagus and pressure of esophageal contraction after swallowing were measured. The results were as follows: 13 patients (OPCA I 2, OPCA II 6, SDS 2, SND 3) experienced the sensation of swallowing disturbance in a narrow sense and 4 patients (OPCA I 1, OPCA II 1, SDS 1, SND 1) had the feeling of passage disturbance. X-ray studies showed 6 patients (OPCA I 0, OPCA II 1, SDS 1, SND 4) had disturbance of lingual movements, 11 patients (OPCA I 1, OPCA II 5, SDS 3, SND 2) had pooling in piriformis sinus and 14 patients (OPCA I 3, OPCA II 4, SDS 5, SND 2) had slight dilatation of the lower esophagus. In the manometric study, 12 patients (OPCA I 4, OPCA II 4, SDS 3, SND 1) were shown to have low intraluminal resting pressure of the upper esophageal sphincter.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Dysphagia in multiple system atrophy--radiological and manometric study]. 833 89

Sixty-five patients suffering from autosomal dominant cerebellar ataxia-I(ADCA-1) were subjected genotype phenotype correlation analysis using molecular genetic assignment to the spinocerebellar ataxia type 1, 2 or 3 (SCA1, -2 or -3) locus, clinical examination, eye movement recording and morphometric analysis of MRIs. Pyramidal tract signs, pale discs and dysphagia were more frequent in SCA1 compared SCA2 and SCA3 patients. Saccade velocity was reduced in 56% of SCA1 and all SCA2, but only in 30% of SCA3 patients. MRIs of SCA2 patients showed atrophy changes typical of severe olivopontocerebellar atrophy (OPCA). The morphological changes in SCA1 were similar but less pronounced. In contrast, SCA3 patients had only mild cerebellar and brain stem atrophy distinct from typical OPCA. The principal finding of this study is that mutations of the SCA2 and SCA3 gene cause phenotypes which can be distinguished in vivo by recording of eye movements and morphometric MRI analysis. Correlative plotting of saccade velocity and diameter of the middle cerebellar peduncle yields a clear separation of SCA2 and SCA3. Spinocerebellar ataxia type I falls into an intermediate range that overlaps with both SCA2 and SCA3. However, the clinical syndrome observed in SCA1 patients is different from that in SCA2 and SCA3.
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PMID:Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3. 893 75

Prognosis of 21 patients with multiple system atrophy (MSA) who deceased or received tracheostomy is described. The percentage of patients with MSA among the cases of spinocerebellar degeneration was 40% in National Tokyo Hospital. There were 12 women and 9 men, and the mean age at onset was 56 years. Seventy-four percent of MSA patients was olivopontocerebellar atrophy (OPCA), 22% was striatonigral degeneration (SND). The mean age of 17 deceased patients (10 women, and 7 men) was 65.5 years. Ten patients did not undergo tracheostomy and deceased, and 11 patients underwent tracheostomy, among whom 4 patients are still alive. Mean duration of illness from onset to death (without tracheostomy) or tracheostomy was 6.8 years. Cause of death of patients who did not undergo tracheostomy was related to paresis of the larynx or pharynx, for example, aspiration pneumonia due to dysphagia, vocal cord paralysis and sudden death. Some of those who underwent tracheostomy deceased for causes which were not directly related to MSA such as cerebral hemorrhage or uremia, but others seem to be related to some problems of respiratory center such as central chronic respiratory failure, or sudden death (sometimes it happened after infection, but the obstruction of the respiratory tract was not always present at autopsy).
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PMID:[Prognosis of multiple system atrophy--survival time with or without tracheostomy]. 1042 39

A Japanese male patient presented with gait disturbance at the age of 69 years. His principal symptom was cerebellar ataxia for several years. He was initially diagnosed as having olivopontocerebellar atrophy because dysarthria and ataxia gradually developed, and head CT scan showed apparent atrophy of the cerebellum and brainstem and dilatation of the fourth ventricle. Later, he showed vertical gaze palsy, dysphagia, retrocollis, parkinsonism, axial dominant rigidity and grasp reflex, and therefore, the diagnosis was modified to progressive supranuclear palsy (PSP). Progressive atrophy of the frontotemporal lobe, cerebellum and brainstem, and dilatation of the lateral, third and fourth ventricles were evident on MRI. Gastrostomy and tracheotomy were performed 9 and 10 years after onset, respectively, and the patient died after 11 years disease duration. At autopsy the brain weighed 1000 g and showed atrophy of the frontotemporal lobe, cerebellum and brainstem. Neurofibrillary tangles, mainly globose-type revealed by Gallyas-Braak silver staining, were extensively observed in the cerebral cortex and subcortical grey matter. Numerous glial fibrillary tangles, including tuft-shaped astrocytes and coiled bodies, and extensive argyrophilic threads were also recognized, particularly in the frontal lobe, basal ganglia, cerebellar white matter, brainstem and spinal cord. The Purkinje cell layer showed severe neuron loss with Bergmann's gliosis, and the dentate nucleus showed severe neuron loss with grumose degeneration. Tau-positive/Gallyas-positive inclusions in the Purkinje cells and the glial cells of the Purkinje cell layer were observed. Pathological findings of the present patient were consistent with the diagnosis of PSP, but the olivopontocerebellar involvement, particularly in the cerebellum, was generally more severe, and the quantity of tau-positive/Gallyas-positive structures were more abundant than in typical PSP cases. The existence of a distinct, rare PSP subtype with severe olivopontocerebellar involvement, "PSP-C", which tends to be clinically misdiagnosed as spinocerebellar degeneration in the early disease stage, is noteworthy. The present case corresponded to this rare subtype of PSP.
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PMID:An autopsied case of progressive supranuclear palsy presenting with cerebellar ataxia and severe cerebellar involvement. 2332 Jul 89


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