Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Four patients with Whipple's disease which had responded to antibiotic therapy, later developed neurologic disease identical to that seen in patients with Whipple's disease who died without treatment. Dementia, myoclonus, ataxia, and supranuclear ophthalmoplegia were the main neurologic features. Restarting antibiotics has been followed by stabilization of disease in all four. Two have improved. In three, the previously diagnosed and treated Whipple's disease was not considered as a possible cause of the neurologic disease until the symptoms and signs were far advanced. It is advisable to periodically evaluate all patients with Whipple's disease, even after successful treatment. Signs of neurologic disease should be considered a possible recurrence of Whipple's disease and antibiotics restarted.
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PMID:Neurologic disease in patients with treated Whipple's disease. 6 1

Two patients aged 17 and 25 years with Kearns syndrome are described. This condition is characterized by the triad of chronic progressive external ophthalmoplegia, pigmentary degeneration of of the retina and cardiac conduction defects. A review of the literature reveals frequent association with other symptoms, mainly cerebellar ataxia, neurosensory hearing loss, small stature, muscle weakness, mental retardation or dementia and endocrine disturbances. In skeletal and extraocular muscle biopsies, abnormalities of mitochondria, at present of unknown significance, have been found. CSF protein is almost always increased. The etiology of this multisystem disorder remains obscure. The 58 published cases have been sporadic, with no evidence of hereditary transmission. The prognosis seems mainly to depend on the progressive cardiac conduction defects, since several patients have already died in the second or third decade due to heart block. Patients with progressive external ophthalmoplegia should be investigated for Kearns syndrome. If appropriate, implantation of a cardiac pacemaker should be considered.
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PMID:[Kearns syndrome. Progressive external ophthalmoplegia, retinal pigment degeneration and heart conduction disorders]. 59 31

A 72-year-old man developed supranuclear ophthalmoplegia, bradykinesia, rigidity, unsteady gait, dementia, dysphagia, retrocollis, grasp reflex and apraxia of eyelid opening. These findings were compatible with progressive supranuclear palsy (PSP). At the age of 66, he presented a peculiar phenomenon characterized by simultaneous tonic contraction of the orbicularis oris muscle (OOM) and the palatal muscles elicited by pronouncing "pa", which resulted in difficulty of voluntary opening of the mouth and the rhinopharynx. Therefore, the respiration air reciprocated between the lung and the closed mouth. The expiratory pressure puffed out the cheeks, while the lips remained tightly closed. While the respiratory movements and the pressure increased by degree, the OOM contracted more strongly in proportion to the pressure. Sixty to ninety seconds after the elicitation, the pressure overcame the contraction of the OOM and the course of the phenomenon was completed. The electromyograms showed that the OOM activity was prolonged after initial voluntary contraction, remaining thus after a tracheostomy for pneumonia at the age of 72, and that it increased in response to the pressure. Apraxia of eyelid opening, one of the other symptoms, resembled this phenomenon in terms of the aspect of difficulty of voluntary mouth opening. The "holding" phase of grasp reflex, yet another symptom, resembled it in the recruitment of the OOM activity. The phenomenon is not common in patients with PSP. However, we concluded that it may be included among the symptoms of PSP because it has similar characteristics to apraxia of eyelid opening and grasp reflex, which are not uncommon in patients with PSP.
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PMID:[A case of progressive supranuclear palsy presenting mouth opening difficulty with tonic contraction of the orbicularis oris muscle]. 130 27

Progressive supranuclear palsy (PSP) was first recognized as a distinct syndrome by Richardson, Steele and Olszewski roughly a quarter century ago. Subsequent clinical experience has corroborated and enlarged their original observations. PSP has become familiar as a chronic progressive disorder with extrapyramidal rigity, bradykinesia, gait impairment, bulbar palsy, dementia and a characteristic supranuclear ophthalmoplegia. It is a significant cause of parkinsonism and its etiology remains obscure. The case of a patient from Santa Catarina who presented definite clinical evidences of this syndrome is reported. This is the first description in this southern Brazilian State, where at least 50 more patients should exist, if we may extrapolate the prevalence rate of this condition in developed countries to this well developed area of Brazil. A review of the literature was undertaken with emphasis on recent clinical and therapeutic aspects of PSP.
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PMID:[Progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of a case and review of the literature]. 130 17

In the past few years several syndromes have been associated with lesions of the human mitochondrial DNA. MtDNA is a small, circular extra-nuclear chromosome encoding essential components of the respiratory chain. MtDNA-related syndromes can be divided into two groups: mitochondrial encephalomyopathies, characterized by the presence of ragged-red fibres (RRF) as the morphological hallmark, or "pure" encephalopathies with no gross morphological abnormalities in muscle. The first group includes myoclonic epilepsy with ragged-red fibres (MERRF), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), Kearns-Sayre syndrome (KSS), chronic progressive external ophthalmoplegia (CPEO) and a new entity, maternally inherited myopathy and cardiomyopathy. The second group includes Leber's Hereditary Optic Neuroretinopathy (LHON) and the newly described ataxia-retinitis pigmentosa-dementia complex. Three kinds of molecular lesions have been identified: point mutations of protein encoding mtDNA-genes (similar to yeast mit- mutations); point mutations of mtDNA-tRNA genes (similar to yeast syn- mutations); and large-scale rearrangements of mtDNA (similar to yeast rho- mutations). In general, "mit-" mutations are responsible for non-RRF encephalopathies, while "syn-" and "rho-" mutations are associated with mitochondrial encephalomyopathies with RRF. Furthermore, point mutations (mit- and syn-) are usually maternally- inherited, while large-scale mtDNA rearrangements are either sporadic or inherited as mendelian traits. In most cases, the molecular detection of the known defects of mtDNA can be carried out by non-invasive techniques, thus making it an easy and relatively inexpensive procedure in the differential diagnosis of the mitochondrial disorders, a rapidly expanding area of clinical neurology.
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PMID:Defects of mitochondrial DNA. 134 53

Two siblings of a consanguineous marriage showed identical clinical features consisting of supranuclear vertical ophthalmoplegia, bradykinesia, rigidity, stooped posture, pseudobulbar palsy, and dementia, all beginning in the sixth decade. There was no history of encephalitis or of exposure to known chemicals. L-Dopa therapy was only partially and temporarily effective. Autopsy of one patient revealed extensive neurofibrillary degeneration with prominent involvement of the limbic system. There were no senile plaques or Lewy bodies. Under electron microscopy, there were paired helical filaments as well as 15-nm-wide straight tubules. The diffuse appearance of neurofibrillary tangles, predominant in the limbic system, and familial occurrence are unusual in progressive supranuclear palsy; these cases may, therefore, constitute a different, distinctive clinicopathologic disease.
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PMID:Progressive supranuclear palsy-like syndrome in two siblings of a consanguineous marriage. 157 23

The signs and symptoms of the Steele-Richardson-Olszewski syndrome (SRO) are described and the therapeutic possibilities are outlined. Two cases are presented. SRO must be suspected when a patient over the age of 40 years presents axial rigidity, dementia, pseudobulbar palsy, and supranuclear ophthalmoplegia.
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PMID:[Steele-Richardson-Olszewski syndrome. Progressive supranuclear paresis]. 177 79

The clinical features of 26 patients diagnosed as progressive supranuclear palsy are reviewed. The atypical findings were the relatively low frequency of visual complaints (23%) and of significant dementia (20%). As well, the characteristic eye signs, supranuclear ophthalmoplegia of vertical gaze, occurred some years after the onset of the initial symptoms in a small but substantial number (31%), which significantly delayed the diagnosis, in one case by as long as 18 years. The pathological studies on 2 of the clinical cases and an additional 6 cases showed the characteristic pattern of involvement of particular subcortical and brainstem nuclei. In particular, significant degeneration of the pedunculopontine tegmental nucleus was confirmed. Degeneration of the pedunculopontine tegmental nucleus may well play an important role in the motor disability in progressive supranuclear palsy.
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PMID:A clinical and pathological study of progressive supranuclear palsy. 182 43

A patient with diffuse Lewy body disease presented with supranuclear vertical and horizontal ophthalmoplegia, dementia, axial rigidity and falls, bradykinesia and pyramidal signs. This broadens the clinical presentation of this pathological diagnosis and re-emphasises the heterogeneity of patients diagnosed clinically as progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome).
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PMID:Diffuse Lewy body disease presenting with a supranuclear gaze palsy. 185 Apr 51

An autopsy case of progressive supranuclear palsy (PSP) associated with central pontine myelinolysis (CPM) is reported. A 73-year-old male patient suffered from gait disturbance for about 5 years. The clinical features were characterized by gradual development of supranuclear ophthalmoplegia, tremor, bradykinesia, rigidity, neck dystonia, dementia and pseudobulbar palsy at the advanced stage of his illness. Treatment with levodopa did not improve his neurological signs and symptoms. PSP or multiple system atrophy was considered as a clinical diagnosis of the patient. He died of pneumonia, acute pancreatitis and liver dysfunction in November 1985. The main neuropathological findings were neuronal loss and gliosis with neurofibrillary tangles of globose type in the globus pallidus, subthalamic nucleus, substantia nigra and dentate nucleus, and at the base of the pons, bilateral and symmetrical demyelination was found. In addition, myelin staining revealed circumscribed pallor in the cerebral white matter. The histologic diagnosis was PSP associated with CPM. An association of PSP with CPM is rare in the elderly and possible etiologic factors of both diseases were discussed.
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PMID:[An autopsy case of progressive supranuclear palsy with central pontine myelinolysis]. 187 Feb 89


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