Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A young adult who presents with periodic vertigo, diplopia, and tinnitus, later followed by progressive ataxia, may not have multiple sclerosis as might initially be suspected, but rather may represent a type of familial spinocerebellar degeneration previously described by Farmer and Mustian as "vestibulocerebellar ataxia." We recently encountered a patient who presented with these symptoms, and who was found to have downbeat nystagmus, ocular dysmetria, skew deviation, optokinetic dissociation, and a vertical gain bias on horizontal eye movements. Although family involvement was specifically denied by the patient, seven members of her family representing four generations were examined, and found to have similar findings. The importance of a careful neuro-ophthalmologic examination in each available family member of any patient presenting with this constellation of symptoms is emphasized. A discussion of the spinocerebellar degenerations, differential diagnosis, and literature review are included.
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PMID:Neuro-ophthalmologic findings in vestibulocerebellar ataxia. 348 54

Four families are described with an autosomal dominant illness characterized by the childhood onset of recurrent attacks of prolonged ataxia, server vertigo, and vomiting. The attacks often begin in infancy. On the average, attacks occur monthly, and last between one hour to more than a week. Variations in severity occur within families. During an attack, consciousness is unaltered, but severe vertigo makes walking impossible and vomiting is frequent and severe. An attack is marked by horizontal and vertical jerk nystagmus, accompanied by vertigo which is sometimes worsened by position; however, there is no muscular weakness. During an attack, blood gases, ammonia, and amino acid studies are normal. Between attacks patients manifest combinations of slight horizontal or vertical jerk nystagmus or mild clumsiness. Cochlear and labyrinthine studies and neurologic investigations were noncontributory. Conventional therapies for vertigo, epilepsy, and migraine were ineffective, but acetazolamide (250-500 mg/day) stopped the attacks.
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PMID:Dominant recurrent ataxia and vertigo of childhood. 350 70

The efficacy and tolerability of vigabatrin (gamma-vinyl GABA, GVG), given as add-on therapy to 23 adult outpatients with severe drug-resistant epilepsy (17 with partial seizures), were studied using a double-blind, placebo-controlled, crossover design. The study consisted of two 7-week periods during which vigabatrin and placebo were administered in random sequence. Dosage was 1.0 g twice daily for patients weighing less than or equal to 65 kg and 1.5 g twice daily for patients weighing greater than 65 kg. Three patients were dropped from the study, two for reasons unrelated to treatment and one because of the appearance of vertigo, headache, dysarthria, and ataxia, which subsided rapidly when vigabatrin was stopped (3 g daily). Sixteen of the 20 patients available for analysis showed a decrease in the total number of seizures as compared with the placebo period. Of these, 12 showed a greater than 50% reduction in seizure frequency and 4 of the 12 showed a greater than 75% reduction. Both the total number of seizures and the number of partial seizures were significantly reduced by vigabatrin (p less than 0.01). Only in the patient who dropped out were severe adverse effects seen. The most frequently reported unwanted effect was mild drowsiness, which developed in seven patients on vigabatrin and in one on placebo. Positive effects, however, were also seen with six patients who reported an improved sense of well-being while receiving vigabatrin as compared with only 1 during the placebo period. No consistent changes in electrocardiogram (ECG), electroencephalogram (EEG), and visual-, auditory-, and somatosensory-evoked potentials were seen during the study.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Vigabatrin in the treatment of epilepsy: a double-blind, placebo-controlled study. 353 69

Twenty patients underwent axilloaxillary bypass at Tufts-New England Medical Center, Boston, between 1973 and 1983, all for tight stenosis or occlusion of the subclavian artery. Review of records was possible for 19 cases. Symptoms included intermittent claudication and numbness of the upper extremity, as well as dizziness, vertigo, and ataxia due to episodes of vertebrobasilar insufficiency. Dacron, reversed saphenous vein, and polytetrafluoroethylene grafts were inserted, with all but one occupying a subcutaneous tunnel across the sternum. There were no operative deaths, and morbidity was minimal. The median follow-up was 83 months. The early patency rate was 94%, with a cumulative patency rate of 89% at ten years of follow-up, as determined by the life-table method. Our experience supports axilloaxillary bypass as a safe and effective treatment for symptomatic subclavian artery insufficiency.
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PMID:Subclavian artery insufficiency. Treatment with axilloaxillary bypass. 363 38

We report the case of a Mexican man who suddenly developed severe occipital headache, vomiting, vertigo, and ataxia. Neurologic examination showed nystagmus and cerebellar findings. Computed tomography of the brain demonstrated a large left cerebellar cystic lesion consistent with the diagnosis of cysticercosis. The patient was treated with dexamethasone and praziquantel and required surgical removal of the lesion to prevent herniation. He recovered without neurologic sequelae. The abrupt onset of cerebellar findings is an unusual presentation of this disease. Central nervous system cysticercosis is being recognized with increasing frequency in the United States, where it is found primarily in Hispanic and Asian immigrants. The literature of central nervous system cysticercosis is reviewed and the pathogenesis, clinical presentation, and therapy are discussed.
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PMID:Central nervous system cysticercosis simulating an acute cerebellar hemorrhage. 372 11

Cerebellopontine angle (CPA) meningiomas constitute about 1% of intracranial meningiomas. The clinical aspects of a series of 32 patients with surgically confirmed CPA meningiomas are analyzed. The most common symptoms at the time of the initial evaluation were from the eighth cranial nerve (unilateral hearing loss--24 patients, vertigo or imbalance--19 patients, tinnitus--11 patients), and the fifth cranial nerve (altered sensation--9 patients, facial pain--5 patients). On examination, the most common findings were absent caloric response (19 patients), nystagmus (16 patients), diminished facial sensation (14 patients), ataxia (13 patients), reduced hearing (9 patients), and facial weakness (9 patients). There was often a long interval from the onset of symptoms to the correct diagnosis of a tumor. Brain stem auditory evoked potentials, blink reflex testing, posterior fossa myelography, computerized tomographic scanning, and angiography were abnormal in all patients in whom the test was done, but all tests were not performed on all patients. Computerized tomographic scanning and angiography are important for definitive diagnosis and for planning surgical treatment. The histopathology of the temporal bone was studied in three patients with meningiomas in the region of the internal auditory meatus.
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PMID:Cerebellopontine angle meningiomas: clinical manifestations and diagnosis. 387 99

Since 1981, 28 patients have been diagnosed with autoimmune inner ear disease. This preliminary, retrospective study reviews clinical and laboratory manifestations of autoimmune vestibular dysfunction. Sixteen of 28 patients presented with dizziness (7 vertigo, 8 lightheadedness, 1 ataxia). Twelve of these patients presented with Meniere's syndrome. Seven of 16 dizzy patients underwent formal vestibular testing. Five had reduced vestibular response in the involved ear(s); one patient had positional nystagmus only; and one had normal results. Of 17 patients with adequate follow-up, 11 presented with dizziness. Hearing improved and dizziness resolved in two patients following treatment. Hearing stabilized and dizziness resolved in two. Hearing stabilized but lightheadedness (without vertigo) persisted in five. Hearing was lost and oscillopsia resulted in two patients. Preliminary conclusions are vestibular dysfunction in autoimmune inner ear disease is nonspecific; bilateral vestibular dysfunction is more common; Meniere's syndrome is relatively common; medical management usually is helpful; surgery at this time does not seem appropriate; vestibular treatment results tend to parallel auditory treatment results.
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PMID:Autoimmune vestibular dysfunction: preliminary report. 387 13

The Arnold-Chiari malformation (ACM) is a rare congenital condition in which there is a downward displacement of the cerebellum through the foramen magnum. Patients with this condition frequently develop symptoms of ataxia, imbalance, or vertigo. As a result the patient is often referred to an otolaryngologist. Such a case is reported. A patient presented with imbalance, had downbeating nystagmus on down gaze, and had other eye movement abnormalities recorded on electronystagmography (ENG) which were strongly suggestive of central pathology. Although her computerized tomography (CT) scan was normal, the eye findings and neurological evaluation were strongly suggestive of an ACM. A repeat CT scan with intrathecal metrizamide was abnormal. A definite diagnosis of ACM was confirmed using the new investigative technique of magnetic resonance imaging (MRI).
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PMID:Arnold-Chiari malformation and the otolaryngologist: place of magnetic resonance imaging and electronystagmography. 397 88

A group of 23 professional divers was investigated before and after dives to 300 and 350 metres of sea water. 12 divers were also studied during the actual dive. All divers presented neurological symptoms and signs during compression. Intention tremor, ataxia, motor weakness, sensory symptoms, vertigo, nausea and reduced memory were the most prominent features of the High Pressure Nervous Syndrome (HPNS). There were considerable individual differences. Neuropsychological and neurophysiological investigations performed after one dive showed no significant changes in any of the divers, while there was a clear-cut impairment in a group of 6 divers who had performed 2 dives 3 months apart. These changes indicate that there may be pressure-induced brain dysfunction which persists for a transient post-dive period. Loss of short-term memory is a prominent part of this dysfunction. Transitory neurological signs indicating focal cerebral dysfunction were found immediately post-dive in 4 divers, presumably reflecting the unmasking of pre-existing subclinical minimal CNS lesions.
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PMID:Central nervous dysfunction associated with deep-sea diving. 397 49

Thirty nine cases of cerebellar infarct and haemorrhage were seen over a period of 3 years. Of these, 69% had no impairment of consciousness. Six cases had nystagmus and gait ataxia as their only abnormal signs. Small cerebellar strokes may present with only vertigo, unsteady gait, and unidirectional nystagmus, thus mimicking labyrinthine lesions. Care in managing vertigo attacks in patients with risk factors for cerebrovascular disease appears to be warranted.
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PMID:Small cerebellar strokes may mimic labyrinthine lesions. 398 Nov 96


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