Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The ocular tilt reaction, a synkinesis of ocular torsion, skew deviation, and head tilting, was a paroxysmal disorder in a patient with multiple sclerosis. In this distinctive pattern of eye and head motion, the 12 o'clock corneal meridians of both eyes are rotated conjugately in the direction of the lower skewed eye and the head is inclined laterally in the same direction. Paroxysmal activation of brain stem otolithic vestibular projections is proposed responsible for the dyskinesia. Coincident attacks of vertical and horizontal low amplitude pendular oscillation of the eyes produced elliptical nystagmus. This ocular motor disorder was treated effectively with carbamazepine.
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PMID:The ocular tilt reaction. A paroxysmal dyskinesia associated with elliptical nystagmus. 88 16

An ocular dyskinesia designated "saccadic nystagmus" was observed in a patient with cerebellar cortical atrophy. Saccadic nystagmus is a sustained ocular dyskinesia present during visual fixation and abolished by eye closure. It is difficult to distinguish visually from either pendular or jerk nystagmus without eye movement recordings. The oscillations are horizontal and rapid and may be influenced by direction of gaze. Caloric nystagmus (eye closed) and optokinetic nystagmus were normal in our patient. Visual fixation abolished caloric nystagmus, which was replaced by saccadic nystagmus.
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PMID:"Saccadic nystagmus" in cerebellar cortical atrophy. 117 1

Physiologic studies were performed on a patient who demonstrated lightning eye movements, palatal myoclonus and myoclonic jerks of the left platysma and sternocleidomastoid muscles. The myoclonus and lightning eye movements were separate phenomena with no defined relationship to each other. Analysis of this ocular dyskinesia identified strictly horizontal saccadic oscillations, 2 to 5 Hz in frequency, with amplitudes varying greatly but often reaching 25 degrees. A brief stationary period between each saccadic oscillation was frequently observed. They were particularly induced by vertical or horizontal ocular pursuit as well as sustained upward or downward ocular deviation. Caloric nystagmus abolished the oscillations but they persisted, irregularly, during optokinetic nystagmus. Thus a faulty visual fixation mechanism is postulated to precipitate lightning eye movements. Constrast studies revealed a mass lesion arising from the right dorsolateral portion of the medulla. These results indicate that lightning eye movements occur with caudal as well as rostral brain-stem lesions. From the clinical findings cerebellar pathway involvement is likely.
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PMID:Lightning eye movements. 124 81

Antiepileptic drug-induced dyskinesias are well described with phenytoin but have only occasionally been reported with carbamazepine. We present two patients with carbamazepine-induced dyskinesia, one with ocular skew deviation and down-beating nystagmus associated with a high therapeutic level, and another with systemic dyskinesia with a toxic carbamazepine level, and compare these with previously reported cases.
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PMID:Carbamazepine-induced dyskinesia and ophthalmoplegia. 219 3

A 49-year-old woman, who presented gait disturbance, orofacial dyskinesia, choreoathetosis and slightly cloudy consciousness, was admitted to our hospital on February 7, 1986. She had a slight fever and sore throat for the previous ten days. She had been treated for hypothyroidism as well as migraine with abnormal electroencephalogram since age 47, and was given a daily dosage of 70 mg phenytoin, 80 mg phenobal, and 125 mg dried thyroid. On admission, she was somnolent, and her speech was slurred. There were choreoathetosis of all extremities, orofacial dyskinesia, horizontal nystagmus, and dysdiadochokinesis with impaired heel-knee and finger-nose test. She could not only walk but also stand by herself. The plasma level of phenytoin was above 40 micrograms/ml (normal: 10 to 20 micrograms/ml). The plasma level of phenobal was normal. T3 was 0.76 ng/dl (normal: 0.96-1.92). T4 was 3.3 micrograms/dl (normal: 5.1-12.8). Biochemical screening, liver and kidney function tests were normal. Cerebrospinal fluid, ECG, chest X-rays and brain CT were normal. Electroencephalogram showed 5 to 6 Hz moderate voltage theta waves with artifacts of electromygram due to orofacial dyskinesia. After phenytoin was discontinued, the dyskinetic movement and gait disturbance disappeared, and her consciousness became alert in parall with reduction of plasma level of phenytoin. We suggested that acute phenytoin intoxication due to low dosages of phenytoin might be precipitated by upper respiratory infection and that involuntary movements in this case might be related to hypothyroidism.
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PMID:[A case of involuntary movements probably produced by low doses of phenytoin intoxication]. 240 Nov 19

One hundred two patients with recurrent, drug-refractory tachyarrhythmias were treated with amiodarone for nine +/- eight months (mean +/- SD) (range, one to 50 months). Forty-five patients exhibited some form of neurotoxic reaction that was severe enough in nine patients to require discontinuation of treatment or reduction in dosage of the drug. The most frequent neurotoxic findings were tremor (44 patients), peripheral neuropathy (ten patients), and ataxia (seven patients). Five patients developed unusual neurotoxic manifestations: brainstem dysfunction characterized by downbeat nystagmus, hemisensory loss and ataxia, severe dyskinesia, jaw tremor, and proximal myopathy. Neurophysiologic studies revealed varying degrees of predominantly demyelinating peripheral neuropathy. Neurotoxic symptoms improved after discontinuing treatment or decreasing the dosage of the drug. Age of the patient and total cumulative dose did not seem to be risk factors for development of neurotoxicity. These neurotoxic findings suggest that amiodarone-induced neurotoxic reactions are not only confined to the peripheral nervous system, but also that parts of the central nervous system (eg, basal ganglia, brain stem, or their connections) may also be involved.
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PMID:Unusual neurotoxicity associated with amiodarone therapy. 303 78

Oculomotor characteristics of patients with Parkinsonism have been analyzed. 1. The Parkinsonian patients showed relatively high frequency, but mild degree of abnormalities in various oculomotor functions such as pursuit eye movements, saccade and optokinetic nystagmus and frequently had positional and positioning nystagmus, although all of them might not relate to the pathology of parkinsonism. 2. When a visual target was presented laterally to a subject and head was free to move, the Parkinsonian patients showed relatively good eye-head coordination for gaze shift, resulting in accurate and stable gaze. However, the reaction times of head and eyes were prolonged and overt head movement was observed. 3. Ocular dyskinesias, characterized by smooth, slow, to-and-fro deviations with large amplitude and prominent in darkness were observed in 8 patients out of 10 with bodily dyskinesia while taking levodopa. 4. Oculogyric crises, paralysis of downward gaze, prolonged reaction time of saccade and poor optokinetic nystagmus were seen in a patient with juvenile Parkinsonism, whose neuropathological examination revealed the most striking changes in the substantia nigra, central grey and midline portion, and ventral and caudal to the central grey.
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PMID:Oculomotor characteristics of parkinsonism in comparison with those of cerebellar ataxia. 658 10

Leigh disease is a subacute neurodegenerative disorder characterized by symmetric necrotic lesions in the basal ganglia, cerebellum, thalamus, brain stem, and optical nerves and caused by altered oxidative phosphorylation. We describe the clinical, biochemical, neuroimaging, and molecular studies of a 19-year-old boy with early-onset Leigh disease manifesting as severe extrapyramidal disorder with generalized dystonia and choreoathetosis. He was born of healthy parents after an uneventful pregnancy and delivery. At the age of 2 1/2 years, after a minor respiratory infection, he developed unstable, broad-based gait and tremor of the hands. These symptoms persisted for the next several years, when ataxia became more prominent. Difficulty in swallowing, dysarthria, trunk dystonia, and marked dyskinesia of the arms and hands gradually developed. Nystagmus, transient ptosis, and strabismus also appeared. Abnormal laboratory findings included elevated plasma and cerebrospinal fluid lactate and pyruvate, with an abnormal lactate/pyruvate ratio. Cranial computed tomography and magnetic resonance imaging demonstrated signs of cerebellar atrophy, bilateral and symmetric hypodensities in the lentiform nucleus and thalamus, and transient hyperintensities of cerebral peduncles in T2-weighted sequences suggestive of Leigh disease. Muscle biopsy revealed isolated fiber atrophy, necrotic fibers undergoing phagocytosis, and no ragged-red fibers. The measured catalytic activity of cytochrome c oxidase in skeletal muscle homogenates demonstrated a partial cytochrome c oxidase deficiency No abnormalities in the mitochondrial genome and in the SURF-1 gene were found. The boy is currently receiving levodopa therapy, creatine monohydrate, and a high dosage of thiamine and lipoic acid, his condition is stabilized, and extrapyramidal symptoms are less pronounced.
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PMID:Cytochrome c oxidase partial deficiency-associated Leigh disease presenting as an extrapyramidal syndrome. 1151 Sep 39

Opsoclonus is a dyskinesia consisting of involuntary, arrhythmic, chaotic, multidirectional saccades, without intersaccadic intervals. We used a magnetic scleral search coil technique to study opsoclonus in two patients with paraneoplastic complications of lung carcinoma. Eye movement recordings provided evidence that opsoclonus is a three-dimensional oscillation, consisting of torsional, horizontal, and vertical components. Torsional nystagmus was also present in one patient. Antineuronal antibody study revealed the presence of anti-Ta (Ma2 onco-neuronal antigen) antibodies in one patient, which had previously been associated only with paraneoplastic limbic encephalitis and brainstem dysfunction, but not opsoclonus, and only in patients with testicular or breast cancer. Neuropathologic examination revealed mild paraneoplastic encephalitis. Normal neurons identified in the nucleus raphe interpositus (rip) do not support postulated dysfunction of omnipause cells in the pathogenesis of opsoclonus. Computer simulation of a model of the saccadic system indicated that disinhibition of the oculomotor region of the fastigial nucleus (FOR) in the cerebellum can generate opsoclonus. Histopathological examination revealed inflammation and gliosis in the fastigial nucleus. This morphological finding is consistent with, but not necessary to confirm, damage to afferent projections to the FOR, as determined by the model. Malfunction of Purkinje cells in the dorsal vermis, which inhibit the FOR, may cause opsoclonus by disinhibiting it.
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PMID:Opsoclonus in three dimensions: oculographic, neuropathologic and modelling correlates. 1153 36

Pallido-nigral spheroids associated with iron deposition have been observed in some aged clinically normal nonhuman primates. In humans, similar findings are observed in neurodegeneration with brain iron accumulation diseases, which, in some cases, show associated mutations in pantothenate kinase 2 gene (PANK2). Here we present an aged gorilla, 40 years old, suffering during the last 2 years of life from progressive tetraparesis, nystagmus, and dyskinesia of the arms, hands, and neck, with accompanying abnormal behavior. The postmortem neuropathologic examination revealed, in addition to aging-associated changes in the brain, numerous corpora amylacea in some brain areas, especially the substantia nigra, and large numbers of axonal spheroids associated with iron accumulation in the internal globus pallidus. Sequencing of the gorilla PANK2 gene failed to detect any mutation. The clinical, neuropathologic, and genetic findings in this gorilla point to an age-related pallido-nigral degeneration that presented PKAN-like neurologic deficits.
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PMID:Neuropathologic findings in an aged albino gorilla. 1858 1


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