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

Myoclonus epilepsy with ragged-red fibers (MERRF) has been shown to be associated with a specific point mutation at the nucleotide 8344 in the tRNA(Lys) gene of mitochondrial DNA (mtDNA). We screened 6 patients with clinically diagnosed MERRF and 1 patient with ocular myopathy for point mutations in the tRNA(Lys) gene, using single strand conformation polymorphism (SSCP) analysis, which can detect even a 1-basepair difference between 2 DNA sequences. Using SSCP and consequent DNA sequencing, we identified the known MERRF mutation in 4 out of 6 MERRF patients, as well as in 1 patient with a new clinical phenotype associated with this mutation: progressive external ophthalmoplegia, muscle weakness and a lipoma, but no myoclonus or epilepsy. Two of the patients with clinical MERRF had neither the MERRF-mutation nor any other mutations in the tRNA(Lys) gene. Using SSCP analysis, we also detected a new polymorphism in 1 patient. Thus, SSCP analysis can be applied to search effectively and rapidly for point mutations or polymorphisms in mitochondrial DNA.
J Neurol Sci 1992 Sep
PMID:Use of single strand conformation polymorphism analysis to detect point mutations in human mitochondrial DNA. 143 90

According to experimental models suggesting that overproduction of oxygen free-radicals may occur when the electron transport in the respiratory chain is impaired, we searched for in vivo biological markers of oxidative stress in 11 patients affected by histologically proven mitochondrial myopathy with progressive external ophthalmoplegia (PEO) and partial cytochrome c oxidase deficiency in muscle fibres. Six of the patients carried large-scale deletions of mitochondrial DNA. Biochemical assays included the determination of plasma and erythrocyte reduced glutathione (GSH) concentration, plasma malondialdehyde, fluorescent adducts of aldehydes with plasma proteins, and serum level of lipid peroxides. In patients with PEO the mean values of lipid peroxides and of the fluorescent adducts of aldehydes with plasma proteins were significantly higher with respect to normal controls, while the mean values of plasma and erythrocyte GSH concentration were significantly lower. The reported data indicate an increase of lipid peroxidation indexes along with the reduction of one of the most important antioxidant systems and suggest the hypothesis that overproduction of reduced oxygen species might be an adjunctive cause of cell damage in mitochondrial myopathies and encephalomyopathies associated with defects of oxidative phosphorylation.
J Neurol Sci 1991 Sep
PMID:Biological markers of oxidative stress in mitochondrial myopathies with progressive external ophthalmoplegia. 166 6

Spontaneous intracerebral hemorrhage rarely occurs in the mesencephalon (midbrain), though thalamic or pontine hemorrhage may extend into that location. The neurologic manifestations and outcome in patients with primary mesencephalic hemorrhage (PMH) are different from those with thalamic or pontine hemorrhage. We report 4 patients (2 men and 2 women) with nontraumatic and non-neoplastic hemorrhages confined to the mesencephalon. One young patient, a 37-year-old woman, had no detectable risk factors for stroke, and her cerebral angiogram was normal. The other 3 elderly patients (73-85 years of age) all had a history of hypertension. The neurologic manifestations of patients with PMH are characterized by disturbance of ocular movements and cerebellar signs. Two patients with tegmental hematoma showed Claude's syndrome, i.e., ipsilateral oculomotor palsy and contralateral cerebellar signs. One patient with a small central midbrain hematoma showed bilateral oculomotor palsy. Another patient with a relatively large central midbrain hematoma presented with bilateral ptosis, bilateral internuclear ophthalmoplegia, upward gaze palsy, and bilateral cerebellar signs. The prognosis after conservative treatment for our patients with PMH was good.
J Formos Med Assoc 1991 Sep
PMID:[Primary mesencephalic hemorrhage: report of four cases]. 168 95

This is a report on a patient with traumatic carotid-cavernous sinus fistula (CCF). She gradually noticed noise in her head and suffered from partial ophthalmoplegia. Angiography demonstrated a left high flow CCF. She underwent a direct surgical treatment with a detachable balloon because an endovascular balloon embolisation for the CCF had been unsuccessful. Immediate disappearance of the bruits after surgery was noted and the patient recovered progressively her ophthalmoplegia. Follow angiograms 3 months after surgery revealed the disappearance of the fistula and an appearance of a false aneurysm. She is asymptomatic and periodically monitored in the outpatient clinic.
Neurochirurgia (Stuttg) 1991 Sep
PMID:Balloon occlusion of carotid-cavernous fistula via subtemporal transdural approach. 174 22

Thirty cases of amyotrophic lateral sclerosis (ALS) supported by respirators for more than 1 year beyond respiratory failure were followed to estimate the progression of their voluntary motor impairment. The extremities were apt to be affected within two years of the onset of the disease, but complete voluntary paralysis occurred in less than half of the cases (14/30), more frequently appearing after respiratory failure. Respiratory and bulbar paralysis were closely related, and combined complete voluntary paralysis of these muscle systems was observed in 25/30 cases. Incomplete external ophthalmoplegia also increased after respiratory failure, but complete voluntary external ophthalmoplegia was rare (5/30).
J Neurol Sci 1991 Sep
PMID:Amyotrophic lateral sclerosis patients living beyond respiratory failure. 179 73

Twelve patients with histologically defined mitochondrial myopathy are described. There were 9 males and 3 females. The age of onset ranged from birth to 35 years with a median of 14 years. The most common clinical picture was that of ophthalmoplegia, ptosis and muscle weakness found in 10 patients. One presented with exercise intolerance due to muscular aches and pains, and the other besides his muscular weakness had mental retardation and an aggressive behavior. The clinical presentation and differential diagnosis of these patients are discussed.
Arq Neuropsiquiatr 1991 Sep
PMID:[Mitochondrial myopathy: report of 12 cases with histochemical study of the skeletal muscle]. 180 26

Mutations in the genetic material of mitochondria have been described in patients with a range of neuro-ophthalmological and neuromuscular disorders. Many cases of Leber's hereditary optic neuropathy are caused by a single point mutation, for example, and Kearns-Sayre syndrome, chronic external ophthalmoplegia, and other mitochondrial cytopathies are frequently associated with large-scale deletions of mitochondrial genes. A knowledge of the role of the mitochondrial genome and of the precise nature of these mutations is important in understanding the etiology of such diseases and is already leading to more effective therapy.
J Clin Neuroophthalmol 1990 Sep
PMID:Mitochondrial mutations in neuro-ophthalmological diseases. A review. 214 33

A 69-year-old diabetic patient taking oral hypoglycemic drugs and with no systemic complications presented a right peripheral facial palsy, and 2 months later a complete right external ophthalmoplegia with sparing of the pupillary function. Clinical, radiologic, and other laboratory investigation ruled out compressive, infectious, and inflammatory etiology. Four months later, after achieving good metabolic control, there was almost complete recovery of the ophthalmoplegia without signs of aberrant regeneration of the third nerve. Diabetes is proposed as the etiology of this case. A possible anatomic substrate is presented to explain the findings.
J Clin Neuroophthalmol 1990 Sep
PMID:Diabetic complete external ophthalmoplegia. 214 39

A 20-year-old woman presented with bilateral ptosis, total ophthalmoplegia, cerebellar symptoms, and hyporeflexia, indicating Fisher's syndrome. She had been diagnosed with infectious mononucleosis 2 months previously. Increased Epstein-Barr virus (EBV) titer was noted, and the Epstein-Barr virus-associated nuclear antigen (EBNA) became positive during the clinical course. Apparent light-near dissociation of the pupils was noted and accommodation was intact. During pharmacological tests with topical application to the eye by sympathomimetic or parasympathomimetic drugs, the pupils showed no supersensitivity, indicating possible central disorder. Enhanced ptosis was noted in each eye and this condition was aggravated by manually lifting the eyelids. The recovery latency time of this enhanced ptosis was approximately 180 ms, indicating a central polysynaptic process to possibly be the cause. Although this condition is considered specifically associated with peripheral neural or muscle diseases, the present case would indicate a central disorder as a possible mechanism.
J Clin Neuroophthalmol 1990 Sep
PMID:Enhanced ptosis in Fisher's syndrome after Epstein-Barr virus infection. 216 1

We describe 5 individuals (from three separate families) with a progressive neurological disorder characterized by sensorimotor peripheral polyneuropathy, cranial neuropathies (external ophthalmoplegia, deafness), and the syndrome of chronic intestinal pseudo-obstruction. Magnetic resonance imaging showed widespread abnormality of the cerebral and cerebellar white matter in the 2 patients studied. Autopsy examination in 3 revealed widespread endoneurial fibrosis and demyelination in the peripheral nervous system, possibly secondary to axonal atrophy, and poorly defined changes in cerebral white matter (leukoencephalopathy). The cranial nerves and spinal roots were less severely involved and the neurons in the brainstem and spinal cord were intact. The fatal gastrointestinal dysmotility was due to a severe visceral neuropathy. We suggest that these patients manifested a hereditary disorder with distinctive clinical, radiological, and neuropathological features, and propose the acronym POLIP to emphasize the distinctive tetrad of polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction.
Ann Neurol 1990 Sep
PMID:Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction: POLIP syndrome. 217 74


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>