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)

A 70-year-old man manifested during four years a progressive clinical picture consisting in palsy of gaze, axial rigidity, disorders of standing and gait, dysarthria, dysphagia. Neuroradiological investigations demonstrated proximal thrombosis of the left subclavian artery with subclavian steal. At necropsy, degenerative changes in several areas of the basal ganglia and brain stem, with presence of globose neurofibrillary tangles, were found, consistently with the pathologic pattern of the Progressive Supranuclear Palsy (PSP). The association of PSP and subclavian steal syndrome has not been previously reported, to our knowledge. We hypothesize that chronic ischemia, due to subclavian steal syndrome, in the vertebral basilar system and its watershed versus carotid system may have favoured the appearance, in these same areas, of the changes of the PSP.
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PMID:Progressive supranuclear palsy in the course of subclavian steal syndrome. 693 74

In this report we are describing 3 further cases of progressive supranuclear palsy, all displaying the typical clinical features (first described by Steele, Richardson and Olszewski, 1964): Ophthalmoplegia (affecting chiefly vertical gaze), pseudobulbar palsy, dysarthria, dystonic rigidity of the neck and upper trunk and dementia. Clinical symptoms started between 49 and 51 years of age with slow progression during 2 to 4 years. One patient died 2 years after the first clinical symptoms began. The purpose of this paper is, to describe a further group of 3 cases of progressive supranuclear palsy and to point out in detail the clinical symptoms, that all correspond to supranuclear localisation of this disease and to report about some differences in the development of the disease and the fully developed disorder. The use of treatment with Adamantin and Akineton was not (very) satisfying.
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PMID:[The Steel Richardson Olszewski-syndrome. A report on 3 further cases (author's transl)]. 723 12

We describe a family with autosomal dominant progressive supranuclear palsy (PSP) involving five generations which was confirmed in one patient. The proband presented with progressive slowness at age 53 years, followed by ocular palsy, loss of balance, axial dystonia, dysphagia and dysarthria, and died at age 59 years. Neuropathological examination revealed moderate numbers of neurofibrillary tangles without prominent senile plaques in the cortex, and neuronal loss, gliosis and moderate to severe accumulation of tangles in the basal ganglia and brainstem. Other affected relatives, including the proband's sister, father, paternal uncle, and other members of earlier generations presented with non-characteristic akinetic syndromes, which progressed towards more typical PSP only after several years of disease. A review of the literature revealed six other families with neurodegenerative disorders associated with pathological findings compatible with PSP in at least one member. The clinical symptoms varied greatly between individuals in these families. The pattern of inheritance seems compatible with autosomal dominant transmission, although other patterns of transmission could not be excluded. We conclude that there is an autosomal dominant form of PSP and that the number of hereditary cases may be greater than previously thought. The rarity of familial cases of PSP could be attributed to diagnostic problems, including lack of recognition of atypical cases and death of the gene carriers before the age of appearance of the clinical symptoms. Large families with hereditary PSP could provide an adequate point of departure for investigation of the gene defect responsible for this disease.
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PMID:Familial progressive supranuclear palsy. Description of a pedigree and review of the literature. 749 73

We describe a clinico-pathological variant of a degenerative disorder involving Broca's, Wernicke's, and supplementary motor areas, which presented as primary progressive aphasia, dysarthria, bucco-facial apraxia, and hearing loss as initial symptoms, followed by organic personality changes. Postmortem examination revealed severe focal atrophy of the cerebral convolutions in the frontal operculum, superior frontal gyrus, and superior and transverse temporal gyri in addition to diffuse atrophy of the frontal and temporal lobes in both hemispheres. Microscopical examination revealed argyrophilic neuronal inclusions (ANIs) in the neuronal perikarya and presynaptic terminal throughout the central nervous system, as well as neuronal loss and swollen chromatolytic neurons in the affected cortices. Neocortical ANIs showed a positive immunoreaction with an anti-tau antibody but only a weak reaction with an anti-ubiquitin antibody immunohistochemically. Ultrastructurally, neocortical ANIs consisted of 15-nm thick smooth-surfaced tubules and tubules with constrictions at 120-150-nm intervals; thus they were different from the typical paired helical filaments of the 80-nm interval constrictions observed in the subiculum. ANIs were also found in the basal ganglia, brain stem nuclei, and cervical cord. Accordingly, ANIs appear distinct from neurofibrillary tangles (NFTs) of progressive supranuclear palsy, NFTs of Alzheimer-type dementia, and Pick bodies. The authors consider that this case fits the histopathological criteria of corticonigral degeneration with neuronal achromasia except for the unusual extension to the temporal lobes.
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PMID:Corticonigral degeneration with neuronal achromasia presenting with primary progressive aphasia: ultrastructural and immunocytochemical studies. 770 78

We used oral motor examinations and quantitative perceptual speech analysis to study deviant speech dimensions in 44 patients with progressive supranuclear palsy (PSP). All patients had dysarthria with variable degrees of spasticity, hypokinesia, and ataxia; 28 patients had all three of these components, and 16 patients had only two components. Twenty-two patients (50%) had predominantly spastic components, 15 (34%) had predominantly hypokinetic components, six (14%) had predominantly ataxic components, and in one (2%) the spastic, hypokinetic, and ataxic components were equal. Stuttering occurred in nine patients (20%) and palilalia in five (11%). The finding of a mixed dysarthria with a combination of spastic, hypokinetic, and ataxic components might assist in diagnosis and is consistent with the widespread neuropathologic changes found in PSP.
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PMID:Perceptual analysis of speech disorders in progressive supranuclear palsy. 845 Oct 2

Progressive supranuclear palsy (PSP) is a neurodegenerative disorder that is generally considered to be nonfamilial. We report a brother and sister with clinical and pathologic findings characteristic of PSP. Both developed parkinsonism in the eighth decade of life and within 5 years exhibited severe postural instability, bradykinesia, rigidity, dystonia, dysarthria, dysphagia, urinary incontinence, pseudobulbar palsy, and supranuclear oculomotor dysfunction but no tremor. Neither responded to levodopa and/or carbidopa. Their mother and, possibly, maternal grandfather reportedly suffered from a parkinsonian syndrome. Essential tremor occurred in the siblings' father and in two of the brother's three children. Autopsy in the brother at age 81 years and sister at age 79 years revealed changes typical of PSP with atrophy and neurofibrillary tangles in the globus pallidus, subthalamic nucleus, and rostral tegmental brainstem. No Lewy bodies were present. These cases are the first pair of relatives reported with autopsy confirmation of PSP in both and raise the question of genetic predisposition to PSP.
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PMID:Autopsy-proven progressive supranuclear palsy in two siblings. 878 66

An autopsy case of progressive supranuclear palsy (PSP) with degeneration of the fronto-pontine tracts of the midbrain and pons, and without grumose degeneration of the dentate nucleus is reported. A 72-year-old woman was suffering from dysarthria and gait disturbance. Moderate dementia was noted and gradually worsened. Pyramidal and extrapyramidal signs and cerebellar ataxia were not observed. Eye movements were fully preserved. Brain CT showed cerebellar atrophy. Three years later, she was unable to stand or move, and became mutistic. At the age of 75, she died suddenly. The duration of her illness was approximately 4 years. Clinical diagnosis was LCCA (late cortical cerebellar atrophy). Neuropathological examination revealed gliosis of the deep layers of the cerebral cortex around the precentral gyrus, fronto-pontine tracts degeneration (posterior part of the anterior crus, genu and anterior part of the posterior crus of the internal capsule, cerebral peduncles of the midbrain, pontine base and pyramis of the medulla oblongata). Also, atrophy of the pons and marked degeneration of the superior colliculi and substantia nigra were observed. Neurofibrillary tangles (NFTs) and glial fibrillary tangles (GFTs) were found in the subcortical nuclei. These findings were almost consistent with PSP. However, the following differed from those of previously reported typical PSP cases: firstly, mild gliosis in the reticular formation of the midbrain; secondly, few NFTs in the pontine nuclei and superior colliculi and; thirdly, no grumose degeneration in the dentate nucleus. In addition, clinical symptoms of the present case are not consistent with PSP. Therefore, we concluded this case to be an atypical PSP both clinically and neuropathologically.
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PMID:[A case of atypical progressive supranuclear palsy with degeneration of the fronto-pontine tracts, and without grumose degeneration of the dentate nucleus]. 895 96

Progressive supranuclear palsy (PSP) is a distinct clinicopathological syndrome described by Steele, Richardson and Olszewski in 1964. Its clinical features include supranuclear ophthalmoplegia, pseudobulbar palsy, dysarthria, nuchal dystonia, and dementia. The neuropathological changes are characteristic and include cell loss, gliosis, and neurofibrillary degeneration in the basal ganglia, brain stem and cerebellum. But, all these clinical features are not present in the early stage and diagnosis of PSP is sometimes difficult. Atypical presentation of PSP includes the case without ophthalmoplegia, with markedly dementia, or pure akinesia. Pure akinesia presents freezing of gait, handwriting and speech without rigidity or tremor, and can be the initial and early symptom-complex of PSP.
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PMID:[Progressive supranuclear palsy]. 901 35

The dysphagia that occurs as an early sign of progressive supranuclear palsy (PSP), and which may predispose patients to aspiration pneumonia, has never been fully characterized. We evaluated 27 patients (mean +/- SEM: age, 64.9 +/- 1 years; symptom duration, 52 +/- 5 months) who met the clinical National Institute of Neurological Disorders and Stroke and Society for PSP (NINDS-SPSP) criteria for possible or probable PSP, with a swallowing questionnaire, an oral motor and speech examination, and either a modified barium swallow or ultrasound studies. Twenty-eight age- and sex-matched healthy controls (age, 65.6 +/- 1.5 years) were also evaluated with the questionnaire, oral examination, and the ultrasound study. We used ANOVA statistics to evaluate differences between groups; nonparametric correlations to assess associations between swallowing and motor and cognitive abnormalities; and logistic regression analysis to determine if the items of the questionnaire or oral examination predicted ultrasound or modified barium swallow abnormalities. While PSP patients had at least one complaint on the swallowing questionnaire (mean, 6.6), healthy controls had fewer and less relevant complaints (0.3). Patients with moderate-to-severe cognitive disabilities had significantly more complaints of dysphagia than those with mild or no impairment. PSP patients' oral motor skills and speech were mildly impaired but significantly different from those of controls. In the ultrasound studies, PSP patients had significantly fewer continuous swallows and required a longer duration to complete their swallows than did healthy controls. They also had mild-to-moderate abnormalities in the modified barium swallow study. The swallowing questionnaire, oral motor examination, and speech production examination accurately predicted the abnormalities detected with the swallowing studies. While 75% of patients had abnormal speech, all but one had abnormal swallowing studies. Thus, although dysphagia is associated with dysarthria, the two conditions are not always paired in the same patient. Our results suggest that the swallowing questionnaire and oral motor examination are an easy and cost-effective method to predict the swallowing disturbances in PSP.
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PMID:Characterizing swallowing abnormalities in progressive supranuclear palsy. 919 82

We report a 65-year-old male with progressive supranuclear palsy (PSP) who developed bilateral vocal cord abductor paralysis (VCAP). The patient was admitted to our hospital because of impaired gait. He was well until two years earlier, when he began to walk unsteadily. During the next two years, dysarthria and dysphagia developed and his gait worsened gradually. On admission, neurological examination showed impaired vertical and incomplete lateral gaze. His speech was slow and monotonous. Contractures were found in the neck muscles and elbows. The deep tendon reflexes were increased in the upper and decreased in the lower extremities. Babinski sign was negative. Snout and forced grasping reflexes were elicited. He showed marked bradykinesia. Magnetic resonance imaging revealed a midbrain tectum atrophy. Single photon emission tomography showed severe hypoper-fusion in the frontal cortex. No improvement was provided by the administration of levodopa-carbidopa, bromocriptine, droxydopa and amitriptyline. One month after admission, inspiratory stridor developed at night. The laryngofiberscopic examination demonstrated VCAP. An emergency tracheostomy relieved his respiratory distress. Although VCAP rarely occurs in neurodegenerative disorders other than multiple system atrophy, attention to VCAP should be required in PSP patients.
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PMID:[A case of progressive supranuclear palsy associated with bilateral vocal cord abductor paralysis]. 936 83


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