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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical picture of progressive supranuclear palsy is relatively constant, including supranuclear ophthalmoplegia, pseudobulbar palsy, axial dystonia in extension, parkinsonian signs, postural instability and dementia. A case is reported, which is unusual in having flexor dystonia of the neck and marked signs of lower motor neuron involvement.
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PMID:Progressive supranuclear palsy with lower motor neuron involvement. A case report. 361 95

Progressive supranuclear palsy (PSP) is a distinct clinicopathologic entity characterized by supranuclear ophthalmoplegia, pseudobulbar palsy, axial dystonia in extension, and subcortical dementia. Although relatively rare, PSP is disabling, thus rehabilitation techniques and management are indicated in nearly every case. This report describes the neurologic presentation, rehabilitation management, and outcome of treatment of a patient with PSP during a 12-month period. The patient required thorough neuromuscular, neuropsychological, speech, swallowing, vision, and social service evaluations prior to the implementation of a rehabilitation program. Therapeutic rehabilitation techniques focused on limb coordination activities, tilt board balancing, ambulation activities, and activities to improve route finding and visual scanning ability. Prism lenses were introduced to compensate for deficits in vertical eye movements. Treatment improved the patient's functional status. Later, as the patient's neurologic status deteriorated, it became necessary to educate the family and caretakers in the ongoing rehabilitation management of the patient.
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PMID:Rehabilitation in progressive supranuclear palsy: case report. 372 94

The clinical features of 66 patients with histologically defined mitochondrial myopathy are described. The age of onset of symptoms ranged from birth to 68 years, but was before 20 years in 61%. Nineteen patients had similarly affected relatives. Three groups of cases could be identified clinically: a combination of progressive external ophthalmoplegia and weakness of the limbs induced or increased by exertion (55%); such limb weakness alone (18%); and those with clinical features, such as ataxia, dementia, deafness, involuntary movements and seizures, predominantly or exclusively arising from the CNS (27%). There was considerable overlap between these groups, and pigmentary retinopathy, present in 36% of patients, occurred in all three. At a mean disease duration of twenty years, 9 patients (all from Group 3) were severely disabled but 42 were still able to work. In vitro studies of mitochondrial metabolism, performed in 33 cases, most commonly showed deficiencies of the mitochondrial respiratory chain localized to complex I (18 patients) or complex III (9). No typical clinical picture emerged for any of the identifiable biochemical defects.
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PMID:The clinical features of mitochondrial myopathy. 377 73

The syndrome of progressive supranuclear ophthalmoplegia (Richardson-Steele-Olszewski-Syndrom) and its relation to other syndromes are discussed on the basis of a number of case histories and a survey of the pertinent literature. The validity of vertical ophthalmoplegia as a pathognomonic symptom is questioned. The main symptoms are as follows: the heightened tone of the neck muscles, as a rule combined with other indications of parkinsonism and an inclination to fall down. To varying degress there are also bulbar signs and subcortical dementia. Neuropathologically the syndrome can be classed with the "multiple system degeneration" group, on which little enough is known. It remains an open question whether the syndrom of Richardson-Steele-Olszewski is a syndrome of its own or whether it is just a variety of parkinsonism.
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PMID:[Progressive supranuclear ophthalmoplegia--a clinical entity?]. 397 41

Four pathologically documented cases of progressive supranuclear palsy are reported. Two patients exhibited severe dementia and 2 parkinsonism; none had the classic ophthalmoplegia. On retrospective analysis, clues to the diagnosis included early prominent gait disturbance, apraxia of eyelid opening in 1 patient, lack of tremor, poor response to levodopa-carbidopa, and severe rigidity with a posture of neck extension terminally in 1 patient. The clinical presentation of progressive supranuclear palsy, therefore, is not as stereotyped as previously thought, and the diagnosis can be overlooked if one adheres rigidly to the classic diagnostic criteria.
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PMID:Atypical presentation of progressive supranuclear palsy. 400 54

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

Ten autopsy cases of Progressive Supranuclear Palsy (PSP) are reported. Age at onset ranged from 16 to 67 years and the duration of illness 3 to 24 years. The clinical features were aggressive mental retardation in 4 cases with early onset, paroxysmal dysequilibrium, ophthalmoplegia, rigidity and akinesia, pseudobulbar palsy and variable degrees of dementia. Neuropathology showed widespread neurofibrillary degeneration associated with system-bound neuronal loss and gliosis in subcortical areas, particularly affecting the subthalamic nucleus, substantia nigra, brainstem tegmentum and dentate nuclei, with no or little involvement of the cerebral cortex. The distribution of the lesions and the ultrastructure of the neurofibrillary tangles made of 15 nm straight filaments (seen in one case) in PSP are different from postencephalitic parkinsonism, Guam Parkinson-dementia complex and brainstem affection in (pre)senile dementia. Post-mortem biochemical analysis of two brains disclosed severe reduction of tyrosine hydroxylase, the key synthetic enzyme of the catecholamine pathway, not only in the nigrostriatal system as seen in Parkinson's disease, but in most areas of the brain-stem and limbic system. The implication and possible pathogenic and therapeutic significance of these biochemical findings are discussed. The etiology of PSP and its nosological position within the degenerative extrapyramidal disorders remain unknown.
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PMID:Progressive supranuclear palsy: clinico-pathological and biochemical studies. 610 28

In two siblings affected with dementia, epilepsy and vertical supranuclear ophthalmoplegia, foam cells and sea-blue histiocytes were found in the bone marrow. Electron microscopy of skin and neuromuscular biopsies gave presumptive evidence in favour of a storage disorder. Postmortem examination of both cases revealed an intraneuronal polymorphous lysosomal storage in the central nervous system (in the cortex and in many nuclei e.g. the substantia nigra and the reticular formation of the brain stem). In the visceral organs with the spleen most severely affected, the inclusions had a different ultrastructure, being composed of tightly apposed leaflets. The biochemical study revealed accumulation of sphingomyelin and other lipids in liver and spleen, with normal sphingomyelinase activities, which is consistent with the diagnosis of Niemann-Pick disease type C. In the brain, the most striking abnormalities involved the glycolipids. Sphingomyelinase activities were unchanged in cultivated skin fibroblasts. These data compared with those of reported cases, allowed the following conclusions to be made: (1) although the combination of clinical features appears to be unique, none of them, when considered separately, is pathognomonic for juvenile dystonic lipidosis; (2) diagnosis during life can be suggested by careful examination of nerve bundles and fibroblasts with the electron microscope, although the method of choice appears to be the study of bone marrow; but final assessment of the diagnosis, in the absence of demonstrable enzymic deficiency, requires in most cases a study of the lipid profile in a liver biopsy (or better, spleen tissue whenever available); (3) the intralysosomal storage is different, both morphologically and biochemically, in the central nervous system and in the spleen; (4) juvenile dystonic lipidosis represents a juvenile variant of Niemann-Pick disease type C, pending the discovery of the primary defect responsible for this disorder.
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PMID:Juvenile dystonic lipidosis (variant of Niemann-Pick disease type C). 652 Jun 12

The authors report the clinical, instrumental and histopathological data observed in a 27 year old man, who died 20 months after the onset of a rapidly progressive neurological syndrome referable to a multitopic brain damage. The clinical picture, which at its fully developed stage was represented by supranuclear ophthalmoplegia, cerebellar ataxia, akinetic-rigid parkinsonism with axial dystonia and dementia, appeared consistent with the diagnosis of P.S.P. The histological examination showed degenerative changes of varied degree in the cerebellum, the brain-stem and the basal ganglia, but the neurofibrillary tangles characteristic of P.S.P. were not found, either with electron-microscopy. The case presented considerable difficulties regarding its nosological classification. Nevertheless, the lack of neuropathological findings of storage disease as well as the particular location of the degenerative lesions have induced the authors to consider it as an atypical form of sporadic O.P.C.A. in the field of M.S.A.
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PMID:Sporadic multi-system atrophy with early onset and rapid fatal outcome (atypical O.P.C.A.?). Case report. 654 85

Progressive supranuclear palsy has been recognized as a distinct nosological entity for about three decades now. Typically, this progressive neurological disease manifests itself late in the sixth decade with a terminal course of approximately four to six years. Well over one hundred cases have been described in the literature and the heterogeneous nature of progressive supranuclear palsy includes the characteristic vertical ophthalmoplegia, frequent falling and a profound nuchal rigidity. Other features are similar in many respects to those found in Parkinson's disease. The present article reviews the literature on progressive supranuclear palsy with particular reference to its clinical manifestations including the ophthalmoplegia, characteristic sleep disturbances and unique dementia. Also addressed, are neuropathological and epidemiological findings. Finally, conclusions and recommendations for further investigation are offered especially with regard to the neuropsychological nature of this neurological disorder.
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PMID:Progressive supranuclear palsy. 676 62


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