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)

Much interest has recently been shown in apoptosis-mediated roles in the pathophysiology of mitochondrial diseases, because mitochondrial defects are implicated in a wide variety of degenerative diseases. We investigated whether apoptotic events occurred in skeletal muscles of patients with mitochondrial diseases, including chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayer syndrome (KSS), and mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). In a immunohistochemical study, stainings for 8-hydroxy-deoxyguanosine (8-OH-dG), 4-hydroxy-nonenal (4-HNE), Mn-SOD, Bcl-2, cytochrome c, DNase I and Bcl-x L showed a pronounced granular distribution in the cytochrome c oxidase (COX)-negative ragged-red fibers (RRFs). On the other hand, the signals for Bax, p53, Fas and caspase 3 were not obviously increased in RRFs. In situ labeling of DNA breaks demonstrated preferential signals not only in myonuclei but also in subsarcolemmal regions of RRFs, indicating that mitochondrial as well as myonuclear DNA is fragmented in RRFs. An immunoblotting study demonstrated that cytochrome c was increased in the cytosol of diseased muscles and that DNase I was increased in mitochondria, compared to that of normal muscles. No difference was observed between protein bands at 20 kDa corresponding to caspase 3 in diseased and normal muscles. These findings demonstrate that these mitochondrial diseases harbor unique apoptosis-related changes that differ from caspase 3-dependent apoptosis. It is thought that these changes are induced by superoxide overproduction and cytochrome c release resulting from an inherent mitochondrial defect and that the events are associated with DNase I activation.
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PMID:Apoptosis-related changes in skeletal muscles of patients with mitochondrial diseases. 1181 Jan 83

Respiratory chain dysfunction leads to reactive oxygen species (ROS) generation with following oxidative stress and cellular damage. A histochemical and immunohistochemical study was performed on muscle biopsies from 17 patients with mitochondrial disease [chronic progressive external ophthalmoplegia (CPEO), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged red fibers (MERRF)] to evaluate the expression pattern and location of manganese superoxide dismutase (MnSOD), copper-zinc superoxide dismutase (CuZnSOD) and reduced glutathione (GSH) in skeletal muscle fibers. Our data showed that: (1) MnSOD, CuZnSOD and GSH are expressed in fibers with respiratory chain deficiency; (2) the antioxidant induction is correlated with the degree of mitochondrial proliferation, but not with clinical phenotype, patients' age, duration of disease, biochemical defects or mitochondrial DNA abnormalities. In addition, we suggest that expression of MnSOD and GSH may be considered an initial, indirect sign of respiratory chain dysfunction because it is observed in the early stages of the disease.
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PMID:Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases. 1190

Pituitary apoplexy is a sight-threatening syndrome in which a pituitary adenoma undergoes sudden enlargement as a result of haemorrhage, infarction or both. Classic features of the syndrome include sudden severe headaches, reduced consciousness, visual impairment, ophthalmoplegia and/or endocrinological disturbance. Pituitary apoplexy has been reported following cardiac bypass surgery. The case is reported of a 68-year-old man who presented with left external and internal ophthalmoplegia, complete ptosis, mild chemosis, reduced vision, and an orbital bruit following coronary artery bypass grafting. Carotid angiography showed the left internal carotid artery to be bowed anteriorly and narrowed. Magnetic resonance imaging demonstrated features consistent with pituitary apoplexy. It is believed that an orbital bruit has not previously been reported in pituitary apoplexy.
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PMID:Pituitary apoplexy presenting with an orbital bruit. 1212 76

Over 100 mutations of mitochondrial DNA (mtDNA) have been associated with human disease. The phenotypic manifestation of mtDNA mutations is extremely broad, from oligosymptomatic patients with isolated deafness, diabetes, ophthalmoplegia, etc., to complex encephalomyopathic disorders that may include dementia, seizures, ataxia, stroke-like episodes, etc. The genotype variants are also wide, with rearrangements (deletions, duplications) and point mutations affecting protein coding genes, tRNAs and rRNAs. There are some broad genotype/phenotype correlations but also substantial overlap. The pathogenetic mechanisms involved in the expression of mtDNA mutations are still not yet fully understood. More recently, mutations of nuclear genes encoding subunits of the respiratory chain, particularly those of complex I, have been identified. These predominantly, but not exclusively, involve infant onset disease with early death. Recently it has become clear that the function of the respiratory chain may be impaired by mutations affecting other mitochondrial proteins or as a secondary phenomenon to other intracellular biochemical derangements. Examples include Friedreich ataxia where a mutation of a nuclear encoded protein (frataxin), probably involved in iron homeostasis in mitochondria, results in severe deficiency of the respiratory chain in a pattern indicative of free radical mediated damage. Mutations of nuclear encoded proteins involved in cytochrome oxidase assembly and maintenance have been characterised and, as predicted, are associated with severe deficiency of cytochrome oxidase and, most frequently, Leigh syndrome. Defects of intracellular metabolism, with particularly excess-free radical generation including nitric oxide or peroxynitrite, may cause secondary damage to the respiratory chain. This is probably of relevance in Huntington disease, motor neuron disease (amyotrophic lateral sclerosis) and Wilson disease. These disorders seem to have defective oxidative phosphorylation as a common pathway in their pathogenesis and it may be that treatments designed to improve respiratory chain function may ameliorate the progression of these disorders.
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PMID:Primary and secondary defects of the mitochondrial respiratory chain. 1213 29

Pituitary apoplexy is defined as a clinical syndrome that may include headache, visual deficits, ophthalmoplegia, or altered mental status. It may result from either infarction or hemorrhage of the pituitary gland. Prognosis is significantly improved with early diagnosis and surgical treatment. We report two cases in which diffusion-weighted MR imaging assisted in the early detection of acute pituitary infarction and led, in one case, to surgical intervention early in the course of clinical apoplexy, with resulting complete recovery.
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PMID:Pituitary apoplexy: early detection with diffusion-weighted MR imaging. 1216 86

We describe four patients with cerebrovascular complications from two unrelated Italian families with Anderson-Fabry disease. Clinical examination, neuroimaging (MRI), biochemical and genetic analyses were carried out in all the patients. Alpha-galactosidase A activity was detected by fluorimetric assay and genetic analysis was performed by DNA sequencing. Family 1. A male patient presented recurrent strokes when he was 34 years old, albuminuria and subsequently progressive renal failure to renal transplantation. Family 2. A male patient, aged 32 years, had diplopia for a few days and then recurrent strokes with left spastic hemiparesis and internuclear ophthalmoplegia. A female patient, aged 48 years, presented L-dopa-responsive parkinsonism, and her sister had stroke when she was 55 years old. MRI was abnormal in all the patients and showed lacunar infarctions in the periventricular white matter, basal ganglia and pons. Lesions were detected by MRI even before stroke in a female patients. In patients with Anderson-Fabry disease, stroke is a frequent complication, and may be the first threatening clinical manifestation. In young people with undefined stroke, even without signs of renal involvement, it is important to consider the diagnosis of Anderson-Fabry disease and so to perform clinical examination and biochemical analyses. The pre-clinical stage of cerebrovascular involvement may be evaluable by MRI.
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PMID:Anderson-Fabry disease with cerebrovascular complications in two Italian families. 1223 91

Some inflammatory diseases of the gastrointestinal system are associated with neurological symptoms which, in rare cases, may precede the onset of the gastrointestinal manifestation of the disease. Celiac sprue is characterized by an intolerance to the wheat protein gluten. The typical neurological manifestation of celiac sprue is cerebellar ataxia. The ataxia as well as the gastrointestinal symptoms can be treated with a strictly gluten-free diet. The neurological symptoms of Whipple's disease, a disorder caused by gram-positive bacilli, are variable. Typical symptoms of cerebral Whipple's disease include dementia, ophthalmoplegia, movement disorders, and signs of hypothalamic dysfunction. Nowadays, the diagnosis of cerebral Whipple's disease is made by PCR detection of the bacilli in the CSF. Crohn's disease and ulcerative colitis are associated with neurological symptoms to a similar proportion. Various forms of polyneuropathies have been observed. The CNS manifestations of inflammatory bowel diseases include thromboembolic stroke, cerebral venous thrombosis, and cerebral vasculitis.
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PMID:[Neurologic complications in inflammatory bowel diseases]. 1224 95

Pituitary apoplexy (PA) is a rare but potentially life-threatening event. Typically, it results from hemorrhage into a pituitary adenoma, although cases affecting the intact gland have been reported. PA may occur spontaneously or in a setting of certain diagnostic and therapeutic procedures. The association of PA and contrast administration in the setting of neuroimaging have been postulated. The authors report a case of PA following coronary angiography. To the best of the authors' knowledge, this scenario has not been previously reported. A 66-year-old woman with a congenital septal defect underwent coronary angiography that was technically uncomplicated. After the procedure, the patient experienced retro-orbital pain and developed ophthalmoplegia. Magnetic resonance imaging (MRI) showed a hemorrhagic sellar mass extending into the cavernous sinus. A 3-month follow-up MRI revealed cystic changes. The patient expired 4 months later because of cardiorespiratory failure. PA in the absence of adenoma was confirmed on autopsy. The authors hypothesize that apoplexy here was related to the administration of Omnipaque in combination with the anticoagulation effect of heparin.
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PMID:Pituitary apoplexy in the setting of coronary angiography. 1288 78

A 47-year-old woman presented with headache, acute monocular vision loss, and ipsilateral Horner syndrome. Apart from the optic neuropathy, all cranial nerve function was intact. Magnetic resonance imaging revealed an enlarged pituitary gland with compression of the orbital apex. The surgical specimen was consistent with pituitary apoplexy. The combination of headache, acute visual loss, and ipsilateral Horner syndrome without ophthalmoplegia, which may suggest carotid artery dissection, is evidently an unusual manifestation of pituitary apoplexy.
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PMID:Pituitary apoplexy causing optic neuropathy and horner syndrome without ophthalmoplegia. 1450 93

The association of internuclear ophthalmoplegia (INO) with torsional nystagmus is rare. We report a case of a 72-year-old male who developed brainstem stroke and was found to have left INO with torsional nystagmus. An MRI correlation in this case has been described.
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PMID:Internuclear ophthalmoplegia and torsional nystagmus: an MRI correlate. 1457 Oct 25


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