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)

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

The clinical features in 100 patients suffered from olivopontocerebellar atrophy (OPCA) and their genetic trait were studied. The diagnosis was verified in all cases with computed tomography, demonstrating the atrophy of cerebellum and brainstem, vascular, neoplastic, infectious and any other organic disorder suspected were excluded. 53 out of 100 cases were sporadic (SOPCA) and the remainder (47 cases) was familial (FOPCA). The age of onset in SOPCA group was 36.1 +/- 14.95 (M +/- SD) in average, while in FOPCA group was 28.9 +/- 11.8. It seems that the symptoms in FOPCA group develop earlier than that in SOPCA group (P less than 0.05). All 47 cases of FOPCA group belong to 36 families in which altogether 166 persons were involved. According to pedigree patterns, there were 26 families inherited as autosomal dominant trait and probably so in another 5 families. Autosomal recessive trait could be confirmed in 2 families, in which the parents of proband were consanguineous, and in 3 other families autosomal recessive trait of inheritance was highly suspected. Anticipation was demonstrated in 26 families with dominant inheritance. Generally, ataxia and weakness of legs develop as initial symptoms in 88% of cases, then followed by dysarthria, and ataxia of upper extremities. The rapid alternating test of hand was impaired in 95% of patients, however, tension tremor was revealed only in 53% of patients. A method for assessing the ataxia quantitatively was proposed, our data suggest that the quantitative alternating test in the upper extremity and the measurement of base-width in lower extremity seem to be valuable in identifying the intensity of ataxia.
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PMID:[Olivopontocerebellar atrophy: clinical analysis of 100 cases]. 186 Mar 80

A case of agenesis of the left internal carotid artery associated with megadolichobasilar anomaly (MDBA) and olivopontocerebellar atrophy (OPCA) was reported. A 73-year-old female had a three-year history of slowly progressing gait disturbance. On admission neurological examination revealed bilateral cerebellar ataxia and dysarthria with increased muscle stretch reflexes and extensor planter response in the left. CT and MRI showed marked atrophy of the brain stem and cerebellum with brain stem rotation and deviation to the right. Total absence of the left internal carotid artery was demonstrated angiographically. The left anterior and middle cerebral arteries were fed by the tortuous megadolichobasilar artery through the enlarged posterior communicating artery. The left ophthalmic artery was fed by the left middle meningeal artery. By the high resolution CT at the skull base, the lack of the carotid canal was demonstrated on the left side. The interesting clinical features of a case of agenesis of the left internal carotid artery were discussed. This case showed a clinical and radiological signs and symptoms of OPCA though any influences by MDBA could not be excluded.
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PMID:[Agenesis of left internal carotid artery associated with megadolichobasilar anomaly and olivopontocerebellar atrophy]. 262 27

We compared the severity of ataxic and spastic dysarthria with local cerebral metabolic rates for glucose (lCMRGlc) in 30 patients with olivopontocerebellar atrophy (OPCA). Perceptual analysis was used to examine the speech disorders, and rating scales were devised to quantitate the degree of ataxia and spasticity in the speech of each patient. lCMRGlc was measured with 18F-2-fluoro-2-deoxy-D-glucose and positron emission tomography (PET). PET studies revealed marked hypometabolism in the cerebellar hemispheres, cerebellar vermis, and brainstem of OPCA patients compared with 30 control subjects. With data normalized to the cerebral cortex, a significant inverse correlation was found between the severity of ataxia in speech and the lCMRGlc within the cerebellar vermis, cerebellar hemispheres, and brainstem, but not within the thalamus. No significant correlation was found between the severity of spasticity in speech and lCMRGlc in any of these structures. The findings support the view that the severity of ataxia in speech in OPCA is related to the functional activity of the cerebellum and its connections in the brainstem.
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PMID:Speech disorders in olivopontocerebellar atrophy correlate with positron emission tomography findings. 326 72

The author depicts a psycholinguistic technique aimed at the identification in the speech of patients with impaired cerebellum of the same signs of ataxia which can be detected in their hand movements. The diagnostic significance of the technique was tested in 3 clinical groups of patients: with multiple sclerosis (Group 1), neurosurgical diseases of the cerebellum (Group 2), and with olivopontocerebellar atrophy (Group 3). The findings obtained suggest that the psycholinguistic technique may be used for the early diagnosis of neurosurgical diseases of the cerebellum, detection of residual focal lesions, diagnosis of multiple sclerosis and its individual clinical forms, as well as for the pathogenetic validation of the restorative training of patients with cerebellar dysarthria.
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PMID:[Focal cerebellar lesions and psycholinguistic methods for their diagnosis]. 342 76

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

A clinical and neuropathological study of a case of xeroderma pigmentosum with severe neurological abnormalities was performed. The patient developed sensitivity to the sun, followed by freckles and malignant skin tumors. Some years after the onset of the cutaneous symptoms, a slowly progressive mental deterioration was noted. Subsequently, dysarthria, increased sensitivity and a tendency to cry and to be easily frightened developed together with ataxia and spasticity of the limbs. Late in the course of the disease the patient was severely disabled because of spastic tetraplegia. The clinical examination revealed generalized slowing in EEG, mixed sensory and motor neuropathy in EMG, thick skull, both cerebral cortical atrophy and ventricular dilatation in computed tomography and marked decrease in cerebrospinal homovanillic acid content. The neuropathological study showed marked loss of neurons in the basal nucleus of Meynert, the substantia nigra, the cerebellum, medulla and spinal cord. Diffuse loss of neurons was noted in the cerebral cortex and in the deep cerebral nuclei. In the nerve cells, a high amount of cytoplasmic lipofuscin was observed in some areas of CNS. The sciatic nerve showed marked loss of axons and heavy deposition of collagen around the remaining nerve fibers. The present neuropathological findings explain many of the clinical symptoms observed in xeroderma pigmentosum and show similarities with those observed in olivopontocerebellar atrophy, although the basic mechanism for the CNS damage is still unclear.
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PMID:Xeroderma pigmentosum with neurological abnormalities. A clinical and neuropathological study. 370 28

Olivopontocerebellar atrophy is a hereditary disorder that has variable clinical manifestations. Five types have been described, as well as a sixth that contains sporadic cases. This report describes a family with three affected members who demonstrate a composite of types III and V. Their features include progressive spasticity, ataxia, dementia, visual loss with retinal pigmentation, dysarthria, ophthalmoplegia, and chorea. This family might represent an additional category of the disease. In the two family members who developed chorea, baclofen resulted in marked improvement with abolition of the choreiform movements. Response has been sustained for several years in the mother and for eight months in the daughter. Neither has experienced any return of chorea while receiving treatment. When attempts were made to discontinue baclofen, choreiform movements returned promptly and with their original severity. Baclofen, a gamma-aminobutyric acid analogue, may be useful in the treatment of other forms of chorea as well.
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PMID:Olivopontocerebellar atrophy with dementia, blindness, and chorea. Response to baclofen. 402 7

A 59-year-old man developed a staggering and wide based-gait in July 1990. Dysarthria, hearing loss, vexation and disturbance of memory appeared in January 1991. He consulted our clinic in May 1991, and cerebellar ataxia, neurogenic bladder, and cerebellar atrophy on brain CT were noted. Subsequently, he was followed as OPCA. Brain and spinal cord MRI (T2 and proton weighted images) revealed hypointensity on the surface of the Sylvian fissure, cerebellum, brainstem and spinal cord. We diagnosed this case as superficial siderosis because of the clinical course, i.e. cerebellar ataxia, dementia and sensorineural hearing impairment, and specific findings on MRI. We consider this case idiopathic superficial siderosis because the origin of the bleeding source was unknown. IMP-SPECT showed low perfusion in the cerebellum and frontal lobe where hemosiderin was heavily deposited. RI cisternography revealed a disturbance of CSF absorption even after 48 hours. The basic rhythm on EEG was slow alpha band with sporadic theta waves dominantly in the frontal lobe. His central conduction time on ABR and SEP was delayed, OKN was poorly elicited and ETT exhibited a staircase pattern. The physiological results as well as the clinical manifestations of the present case suggest that hemosiderin deposit on the surface of brain and spinal cord caused serious damage to the underlying structures.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of idiopathic superficial siderosis of the central nervous system]. 789 35

We reported a case of crossed cerebello-cerebral diaschisis (CCCD) in olivopontocerebellar atrophy (OPCA). A 49-year-old male was admitted with complaints of titubation, dysarthria and tremor. Examination on admission revealed exaggerated triceps, patella and achilles tendon reflexes on both sides and rigidity in left wrist. Ocular movements were slightly saccadic and speech was scanning or explosive. Finger-nose and heel-knee coordination was poor on both sides (left dominant). Cardiovascular reflex tests showed abnormal findings, suggesting insidious autonomic dysfunction. Brain CT and magnetic resonance imaging (MRI) revealed mild atrophy of the pons and cerebellum. Brain single photon emission computed tomography (SPECT) showed reduced cerebellar N-isopropyl-P-(123I) iodoamphetamine (IMP) uptake more prominent on the left than on the right side. A reduction of 123I-IMP uptake was more striking in the right thalamus, basal ganglia and frontal lobe than on the left side. The cerebellar sign which was left dominant and the left extrapyramidal sign were consistent with the side where reduction of 123I-IMP uptake was more prominent. We suggest that CCCD in our case resulted from transneuronal deactivation in the classic anatomical (cerebello-thalamo-cortical) pathway and dopaminergic (cerebello-basal ganglia-cortical) pathway. There is a possibility that CCCD reflects the development of pathological changes in OPCA.
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PMID:[Crossed cerebello-cerebral diaschisis in olivopontocerebellar atrophy]. 799 98


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