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)

Freezing is a common and disabling symptom in patients with Parkinsonism. It affects most commonly the gait in the form of start hesitation and sudden immobility often resulting in falling. A higher incidence of freezing occurs in patients with progressive supranuclear palsy (PSP) which is characterized clinically by a constellation of symptoms including supranuclear ophthalmoplegia, postural instability, axial rigidity, dysarthria, Parkinsonism, and pseudobulbar palsy. Pharmacologic therapy of PSP is currently disappointing and the disease progresses relentlessly to a fatal outcome within the first decade after onset. This report concerns a 67 year old woman with a diagnosis of PSP in whom freezing and frequent falling were the most disabling symptoms of the disease at the time of presentation. Both symptoms, which were rated 4 on the Unified Parkinson Rating Scale (UPRS) which grades Parkinsonian symptoms and signs from 0 to 4, with 0 being normal and 4 being severe symptoms, were resistant to treatment with dopaminergic drugs such as levodopa, amantadine, selegiline and pergolide mesylate as well as with the potent and highly selective noradrenergic reuptake inhibitor nortriptyline. Weekly transcranial applications of AC pulsed electromagnetic fields (EMFs) of picotesla flux density was associated with approximately 50% reduction in the frequency of freezing and about 80-90% reduction in frequency of falling after a 6 months follow-up period. At this point freezing was rated 2 while falling received a score of 1 on the UPRS. In addition, this treatment was associated with an improvement in Parkinsonian and pseudobulbar symptoms with the difference between the pre-and post EMF treatment across 13 measures being highly significant (p < .005; Sign test). These results suggest that transcranial administration AC pulsed EMFs in the picotesla flux density is efficacious in the treatment of PSP.
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PMID:Transcranial AC pulsed applications of weak electromagnetic fields reduces freezing and falling in progressive supranuclear palsy: a case report. 962 98

We reported a 68-year-old man with progressive supranuclear palsy who present with apraxia of eyelid closure. He showed horizontal and vertical supranuclear ophthalmoplegia, neck dystonic posture, pseudobulbar palsy and subcortical dementia. He opened his eyes almost all day long except for sleeping. His spontaneous blinking was noted at less than 1 per a minute. Although he closed his eyes reflexively, he could not close his eyes by verbal command. He occasionally closed his eyelids by using both hands. The surface electromyographic (EMG) findings revealed that the frequency of frontal muscle contraction did not decrease, and rather increased during verbal command to close his eyes. The contraction frequency of orbicularis oculi muscle did not increase by the command of voluntary eyelid closure. It is suggested that abnormal contractions of frontalis and orbicularis oculi muscles which are correlated in eyelid closing and opening might contribute to the apraxia of eyelid closure.
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PMID:[Apraxia of eyelid closure in a patient with progressive supranuclear palsy]. 1061 58

Progressive supranuclear palsy (PSP) is a degenerative condition of unknown aetiology that produces an akinetic-rigid form of parkinsonism characterised by early falls and abnormalities of extraocular movements. Mean age of onset is approximately 63 years, and mean survival from symptom onset is 9 years. Men are much more frequently affected than women. The classic clinical finding is supranuclear ophthalmoplegia, which may not present until late in the illness, if at all. The clinical diagnosis of PSP can be difficult to make, as the sites of pathology are heterogeneous. Structural and functional neuroimaging studies, although not specific for PSP, may be of some assistance in making the diagnosis. The definitive diagnosis of PSP requires the presence of both clinical and neuropathological evidence. Multiple anatomical sites are affected in PSP. The most consistently involved are the subthalamic nucleus, globus pallidus interna and externa, pontine nuclei, periaqueductal grey matter and the substantia nigra. The location of the pathology accounts for the clinical features. The histological hallmark of PSP is the presence of globose neurofibrillary tangles in the affected subcortical nuclei. Neurofibrillary tangles are composed of abnormally phosphorylated tau, a microtubule-associated protein that is involved in maintenance of the cytoskeleton. Abnormalities near or in the gene coding for tau are implicated in the pathogenesis of PSP. The multiple neurotransmitter abnormalities, including those affecting dopamine, acetylcholine, gamma-aminobutyric acid and norepinephrine (noradrenaline) systems and pathways, as well as both pre- and post-synaptic pathology, make pharmacological therapy of PSP a challenge. Although an individual patient may respond to a drug, in general patients with PSP have a minimal response and a short duration of sustained benefit.
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PMID:Progressive supranuclear palsy: clinical features, pathophysiology and management. 1188 46

We evaluated 16 (15 men, 1 woman) autopsy-verified progressive supranuclear palsy (PSP) cases during 31 years (1969-2000) for clinical diagnosis and the course of the disease. The onset was gait difficulty or postural instability in 9 (56.3%), general motor slowing in 3 (18.8%), and tremor in 2. One case had onset with cognitive decline and 1 as hemidystonia. Four cases had supranuclear ophthalmoplegia (SNO) at the first assessment and were diagnosed as PSP. By last assessment, PSP diagnosis was made in 4 additional cases, but in 8 (50%) who never manifested ophthalmoplegia (mean 9.8 years after onset), PSP diagnosis was not made. Other manifestations included bulbar symptoms in 13 (81.3%), and cognitive impairment in 10 (62.5%) during the course of illness. Fifteen cases received levodopa, amantadine, anticholinergics, dopamine agonists, and selegiline in different combinations with symptomatic benefit in 9 of 15 (60%). Five had some improvement on levodopa alone and 3 showed more improvement when a dopamine agonist was added to levodopa. In general, the benefit was minimal and occurred only early in the course of illness. The mean age at onset was 63.7 (range, 53-85) years. Mean duration at PSP diagnosis was 4.8 (range, 2-11) years. Mean survival was 8.6 (range, 3-24) years and mean age at death was 72.3 (range, 60-89) years. When the different diagnostic criteria recommended in the literature were used, the accuracy of clinical diagnosis did not improve substantially.
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PMID:Progressive supranuclear palsy diagnosis and confounding features: report on 16 autopsied cases. 1246 65

We studied the clinical features, the natural history and disability in 47 progressive supranuclear palsy patients and brain imaging aspects by routinely performed MRI in a subgroup of 25. Unexplained falls together with atypical parkinsonism (symmetric, levodopa unresponsive without resting tremor) are good clinical pointers of the early diagnosis, since they occurred within the first year. Cognitive slowness and unspecific visual complains are also early symptoms, while usual cardinal signs such as supranuclear palsy are more delayed. Blepharospasm and eyelid opening apraxia as well as deep sighs are also quite characteristic clinical features (1/3 of cases). Cardinal signs (falls, pseudobulbar signs, supranuclear gaze palsy) worsened rapidly (20 to 30 months) towards a major disability. In the 20 patients deceased during follow-up, the mean survival time was about 5 years. The MRI study showed typical cortical fronto-temporo-parietal atrophy, mesencephalic and quadrigeminal plate atrophy with third ventricle dilatation. In conclusion, unexplained falls associated with atypical parkinsonism are contributive for the early clinical diagnosis. Non specific visual complains could be useful pointers in the absence of supranuclear ophthalmoplegia. MRI contributes to the clinical diagnosis even in the first 3 years of the disease course.
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PMID:[Progressive supranuclear palsy: a clinical, natural history and disability study]. 1261 51

A case is presented here of a 73-year-old man who showed signs of dementia, supranuclear vertical ophthalmoplegia, pseudobulbar palsy, axial dystonia, mild rigidity, and parkinsonian gait. Computed tomography of the head revealed symmetrical calcification in the striatum, globus pallidus and dentate nucleus to an extraordinary degree. No metabolic conditions were observed that could explain the intracranial calcification. Oral administration of levodopa improved the patient's motor symptoms to some extent. Ophthalmoplegia, parkinsonism and dementia combined are typically seen in patients with progressive supranuclear palsy. However, the present case and a few others that have been reported would seem to indicate that these unique symptoms might also be found in patients with intracranial calcification.
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PMID:Vertical ophthalmoplegia in a demented patient with striatopallidodentate calcification. 1283 28

Progressive supranuclear palsy (PSP) is a neurodegenerative disorder characterized by an akinetic rigid syndrome with vertical supranuclear ophthalmoplegia, early falls, and levodopa resistance. The pathological substrate of PSP consists of filamentous tau degenerative lesions affecting neurons and glia. Other disorders can present with a similar clinical picture, most commonly corticobasal degeneration and multiple system atrophy. Non-neurodegenerative disorders are rare causes of the PSP syndrome. In this report we describe clinical and pathological features of two cases of Creutzfeldt-Jakob disease (CJD) presenting with the PSP syndrome and discuss which features may help prevent misdiagnosis. To our knowledge, this is the first report of cases of CJD with autopsy confirmation that presented with a PSP syndrome.
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PMID:Creutzfeldt-Jakob disease presenting as progressive supranuclear palsy. 1514 29

This paper reviews a variety of abnormal eye movements which include abnormal ocular positions, restricted eye motions, impairment of conjugated eye movements, abnormal smooth pursuit, abnormal saccade, gaze-evoked nystagmus, down-beat nystagmus, internuclear ophthalmoplegia, supranuclear ophthalmoplegia, square wave jerks, roving eye movement, ocular bobbing, ocular dipping, reverse ocular bobbing, and ping-pong gaze. Abnormal eye movements occur from stroke, spinocerebellar degeneration, Parkinson disease, multiple system atrophy, progressive supranuclear palsy, multiple sclerosis, Miller Fisher syndrome, myasthenia gravis, opsoclonus-polymyoclonia syndrome, and Creutzfeldt-Jakob disease. In neurological practice, it is important to observe abnormal eye movements accurately and enthusiastically, to make appropriate anatomical and etiological diagnosis.
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PMID:[Clinical aspects of abnormal eye movements]. 1515 59

The objective of this study is to better define the pathological characteristics of pathologically proven progressive supranuclear palsy (PSP) presenting with the corticobasal syndrome (CBS). PSP is characterized by early falls, vertical supranuclear ophthalmoplegia, and axial rigidity, whereas asymmetric limb features, including rigidity, bradykinesia, apraxia, alien limb phenomena, and cortical sensory loss are characteristic of CBS. We investigated clinicopathological characteristics of 5 cases of PSP that presented with CBS (CBS-PSP). Comprehensive pathological analysis was undertaken to determine the presence of concomitant pathological processes as well as quantitative tau burden in cortical regions of CBS-PSP, compared with 8 typical PSP cases (Typ-PSP). The clinical features in the CBS-PSP cases included asymmetrical features, apraxia, alien limb phenomena, and progressive aphasia. All cases had Parkinsonism, and vertical supranuclear ophthalmoplegia was noted in all but 1 case of CBS-PSP. Secondary neuropathological diagnoses included argyrophilic grain disease (AGD) in 1 of the 8 cases of Typ-PSP, whereas Alzheimer's disease (AD), Lewy body disease, AGD, and vascular disease was found in 3 cases of CBS-PSP. Image analysis of cortical tau burden performed in 8 Typ-PSP and 3 CBS-PSP cases revealed a significant increased tau burden in mid-frontal and inferior-parietal cortices in the CBS-PSP cases. This study demonstrates that when PSP presents as CBS, it is most likely due to either a concurrent cortical pathology from a secondary process such as AD or from the primary pathology of PSP extending into cortical areas that are primarily and commonly affected in CBD.
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PMID:Increased tau burden in the cortices of progressive supranuclear palsy presenting with corticobasal syndrome. 1583 57

We present a patient with progressive supranuclear palsy (PSP) who had a bilateral internuclear ophthalmoplegia (INO) that could be fully overcome by the oculocephalic maneuver. In addition to being an unusual finding in the clinical setting of PSP, this phenomenon has interesting implications for the functional control of conjugate horizontal gaze.
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PMID:Bilateral internuclear ophthalmoplegia in progressive supranuclear palsy with an overriding oculocephalic maneuver. 1585 6


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