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)

The mitochondrial DNA (mtDNA) transfer RNA (tRNA)Lys A-->G(8344) mutation was identified in seven patients. These patients and their relatives were assessed clinically; in one family the mutation was deduced to be present in four generations. The phenotype in index cases was consistent with the syndrome of myoclonic epilepsy with ragged red fibres, with the core clinical features of myoclonus, ataxia and seizures. Amongst other features, progressive external ophthalmoplegia, Leigh's syndrome and stroke-like episodes were observed, well recognized in mitochondrial myopathies but novel manifestations of this genotype. Samples of blood and muscle were analysed for the proportion of mutant mtDNA using an oligonucleotide hybridization technique. The proportion of mutant mtDNA in blood was significantly greater in symptomatic than asymptomatic cases. Furthermore, the proportion of mutant mtDNA in blood correlated with age of onset of disease and clinical severity assessed by a simple scale. Study of disease associated with the tRNA(Lys) A-->G(8344) mutation provides further insight into the pathogenesis and transmission of mitochondrial diseases. Quantification of the proportion of mtDNA in tissues demonstrates that this is a major factor determining the course of disease, but other, as yet unidentified factors are also likely to play a role.
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PMID:The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA. 851 95

Pure neurologic Whipple's disease (WD) may be suspected by same clinical data (dementia-ophthalmoplegia-myoclonus triad, oculomasticatory myorhythmia) with support of MRI. Diagnosis is confirmed by intestinal and/or brain biopsy. Early recognition is critical in a disease that can lead to irreversible neurologic sequelae and that can potentially be cured. Despite therapy, relapses in patients with WD are common, being neurologic recurrence the most frequent and serious. Antibiotics that do not cross the blood-brain barrier are not adequate initial therapy for WD, because they predispose to neurologic relapse. Patients with WD should be treated for one year with antibiotics that cross the blood-brain barrier (such as parenteral penicillin+streptomycin, followed by oral trimethoprim-sulfamethoxazole). CNS relapse is usually resistant to therapy.
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PMID:[Neurologic manifestations of Whipple disease]. 851 45

Corticobasal degeneration (CBD) is a slowly progressive disorder characterized by an asymmetrical akinetic-rigid syndrome, supranuclear ophthalmoplegia, dystonia, often accompanied by involuntary movements, particularly myoclonus, and associated with lateralized cortical signs such as alien limb behavior and apraxia. Computerized tomography demonstrates asymmetrical frontoparietal cortical atrophy in the later stages of the illness. Neuropathological examination reveals neuronal loss, gliosis and swollen achromatic neurons within the frontal and temporal cortices, and the substantia nigra. We discuss here a unique phenomenon not described so far in three patients with clinical features of CBD, one with subsequent autopsy observations. When awake, they all showed a common behavior, their mouth opened constantly and immediately, when a tongue-depresser was approached in front of it by the examiner. In two of them, their mouth also opened when its corner was stroked by a tongue-depressor. They could not control these phenomena at all, even they were asked not to open their mouth. We would like to call these phenomena "forced mouth opening reactions" because they were uncontrollable voluntarily. They may be divided into two groups, i.e. visual and tactile "forced mouth opening reactions". In all the patients the neurological, neuro-imaging and neuropathological data showed that the frontal lobes were damaged. Additionally, they had some frontal lobe release signs such as forced grasping, forced groping, or alien limb sign. We would like to apply the mechanism for these release signs to the "forced mouth opening reactions". Thus, we speculate that the frontal lobe contains a higher motor control mechanism for normal mouth opening movement, and the "forced mouth opening reactions" result from impairment of this control.
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PMID:["Forced mouth opening reaction" associated with corticobasal degeneration]. 924 34

Patients with supranuclear and internuclear ocular motility disorders may have nystagmus and oscillopsia, or need to adopt an abnormal head posture to either fixate or maintain binocularity. Many have a cosmetically unsatisfactory appearance. In addition, because of lesions involving ocular motor nuclei or nerve fascicles, double vision is also a common problem. The usual management of these patients is symptomatic with occlusion or prisms. We report on 11 patients who underwent extraocular muscle surgery with the aim of reducing symptoms and restoring or improving binocular single vision. Three patients had bilateral internuclear ophthalmoplegia with exotropia, 3 had dorsal midbrain syndrome, 2 had residual upgaze palsies after cerebral vascular accidents, 2 had oculopalatal myoclonus and one skew deviation. After surgery, symptoms, visual function and cosmesis improved in nearly all patients. We recommend that surgery should be considered more readily in the rehabilitation of these patients.
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PMID:Surgical treatment of supranuclear and internuclear ocular motility disorders. 937 80

Anti-Ri antibodies most often occur in patients with breast cancer and typically are associated with the paraneoplastic syndrome of opsoclonus-myoclonus-ataxia. This study reports a patient with diplopia and ophthalmoplegia. She had anti-Ri antibodies, and despite an exhaustive search for malignancy at presentation, breast cancer was not detected for six months.
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PMID:Ophthalmoplegia associated with the anti-Ri antibody. 1060 78

A 36-year-old Japanese woman was admitted to our hospital, because of facial palsy, ophthalmoplegia, cerebellar ataxia, and rhythmic myoclonus of the neck. About a few weeks before admission, she developed symptoms of common cold and general fatigue. Her laboratory data were unremarkable, and her CSF was normal. Serum levels of antibodies to gangliosides were within normal limits. Her MRIs of the brain and neck were normal. Both somatosensory evoked cortical potential study and auditory evoked brainstem response study were normal. She was diagnosed as postinfectious brainstem encephalitis, and the administration of corticosteroid was started. After the treatment, her symptoms improved. To our knowledge, it is rare to see myoclonus to the neck without palatal tremor in patients with brainstem encephalitis.
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PMID:[Rhythmic involuntary movement of the neck in a patient with brainstem encephalitis]. 1065

In this clinicopathological conference we discuss the case of a patient aged 49 years, who developed progressive clinical picture characterized by palatal tremor (PT), segmental myoclonus, cerebellar ataxia, parkinsonism, amyotrophy, pyramidal signs, supranuclear ophthalmoplegia, parkinsonism and cognitive decline. He died 10 years after onset. There was no family history of ataxia. Initially a diagnosis of cerebral Whipple's disease was given, but prolonged treatment with ampicilin and cloramfenicol did not modify the clinical course. Magnetic resonance imaging study showed cerebellar and brainstem atrophy. Electrophysiological examination revealed neurogenic electromyographic pattern and abnormal somatosensory and brainstem evoked potentials. Starting from symptomatic PT, as the guide sign, a presumptive pathological diagnosis of sporadic olivopontocerebellar atrophy (OPCA) was established, probably of multiple system atrophy (MSA) type. Neuropathological study demonstrated OPCA with preferential involvement of cerebellum but without glial inclusions. This case illustrates the great clinicopathological complexity of OPCA and that not all forms of sporadic OPCA may be included within MSA.
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PMID:[Man aged 49 years suffering from progressive clinical picture with palatal tremor, segmental myoclonus, ataxia, parkinsonism, amyotrophy, pyramidal signs, supranuclear ophthalmoplegia and cognitive decline]. 1203 Dec 13

Both dominant and recessive missense mutations were recently reported in the gene encoding the mitochondrial DNA polymerase gamma (POLG) in patients with progressive external ophthalmoplegia (PEO). The authors report on a patient homozygous for a recessive missense mutation in POLG who presented with a multisystem disorder without PEO. The most prominent features were myoclonus, seizure, and sensory ataxic neuropathy, so the clinical picture overlapped with the syndrome of myoclonus, epilepsy, and ragged red fibers (MERRF).
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PMID:Patient homozygous for a recessive POLG mutation presents with features of MERRF. 1469 57

We report clinical features of ocular symptoms in 80 patients with multiple sclerosis (MS). Serial 80 patients with MS had been admitted to our Neurology Ward at Nihon University Itabashi Hospital from April 1980 to October 2003. All patients were also examined by our neuro-ophthalmologists. Ocular symptoms were observed in 49 patients, and 14 patients were male and 35 were female. Patients' age at onset varied from 17 to 51 years old, with the average being 31.2 +/- 4.2 years. Observation period were 6 months to15 years, and average 5.4 +/- 1.4 years. In visual symptoms, retrobulbar optic neuritis was observed in 33 eyes of 26 patients. On the first attack of retrobulbar optic neuritis, 25 eyes showed a corrected visual acuity of less than 0.1. After corticosteroid therapy, a corrected visual acuity improved more than 1.0 in 17 eyes. Optic atrophy was observed in 22 eyes and color blindness in 16 eyes. On the second attack of retrobulbar optic neuritis on the same eyes, 6 of 9 eyes showed a corrected visual acuity of less than 0.1 after corticosteroid therapy. Optic atrophy and color blindness were confirmed in all eyes. Homonymous hemianopia was detected in 2 female patients and completely resolved after corticosteroid therapy. On the other hand, ocular motor symptoms were observed in 29 patients. Internuclear ophthalmoplegia was detected in 18 patients, nystagmus in 5, abducens nerve palsy in 5, skew deviation in 5, one-and-a-half syndrome in 2, gaze palsy in 2 and ocular myoclonus in 1. In all except one patient with primary position downbeat nystagmus, ocular myoclonus and bilateral internuclear ophthalmoplegia, these symptoms improved completely within 8 weeks after corticosteroid therapy. We emphasize that cooperation of neurologist and ophthalmologist plays an important role for clinical evaluation of MS patients.
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PMID:[A neuro-ophthalmological analysis in 80 cases of multiple sclerosis]. 1547 Oct 86

Whipple disease (WD) is a rare systemic infection caused by the bacteria Tropheryma whipplei. Slowly progressive dementia, supranuclear ophthalmoplegia, headache, myoclonus, hypothalamic dysfunction, oculomasticatory-skeletal myorythmia are characteristic manifestations when WD involves the central nervous system (CNS). Treatment of cerebral WD should be performed with antibiotics that reach the CNS for at the least one-year. We alert for the early diagnosis of WD in patients with exclusively neurological clinical pictures, sometimes with atypical or non-definitive diagnosis, because it is a potential treatable disease.
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PMID:[Whipple disease and central nervous system]. 1620 56


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