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 familial occurrence of essential tremor combined with (congenital) nystagmus, duodenal ulceration and a narcolepsy-like sleep disturbance caused by an autosomal dominant gene with high penetrance and fairly uniform expressivity is reported in a family of Swedish-Finnish ancestry. Twelve of 17 affected family members had essential tremor which began between 30-40 years of age and which could be controlled temporarily by alcohol; this resulted in alcoholism in several affected individuals. The most severly affected persons showed cerebellar signs which may reflect a possible pathogenetic relationship of the syndrome to the genetic cerebellar atrophies. Nystagmus, observed in 12 of 17 affected family members (eight of whom were also affected with tremor) usually was congenital and accompanied by refractive errors. Duodenal ulcers occurred almost exclusively in individuals with the neurological syndrome, and preceded its onset in some cases. The ulcer disease therefore seems to be a component manifestation of the syndrome and is interpreted as a pleiotropic effect of the gene which also causes the nystagmus, tremor and sleep disturbance.
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PMID:Essential tremor, nystagmus and duodenal ulceration. A "new" dominantly inherited condition. 124 68

Thirty-two cases of Wernicke's encephalopathy were admitted to hospital for treatment in a period of 33 months; this represented a relatively low incidence in total hospital admissions. Thiamin status was deficient, borderline and normal in 21 (66%), five (16%) and six (19%) patients, respectively, and responded immediately to treatment in those who had abnormal thiamin status. Ophthalmoplegia responded rapidly to treatment. Nystagmus, ataxia, disturbance of mental function and peripheral neuropathy responded incompletely to treatment in both the short-and the long-term. The overall setting for the development of Wernicke's encephalopathy appears to be chronic alcohol abuse, accompanied by cerebral "atrophy" and liver disease, but often without gross evidence of malnutrition.
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PMID:Wernicke's encephalopathy in a metropolitan hospital. A prospective study of incidence, characteristics and outcome. 394 14

Auditory and vestibular functions were studied in 85 chronic alcoholics (45 subjects with Stage II and 40 with Stage III alcoholism). In 54.1% of all cases, disorders in the auditory analyzer, predominantly at the site of the first neuron, were detected. It was revealed that following the progression of the disease to Stage III, auditory disturbances in such patients became more frequent and prominent. The study of the vestibular analyzer showed that the hyperreflexia of caloric and postrotatory nystagmus characteristic of the second stage of chronic alcoholism was replaced, at the next stage of disease, by normo- and hyporeflexia; there was also an increase in the changes of caloric nystagmus expressed in the form of rhythm disturbances.
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PMID:[Cochleovestibular disorders in chronic alcoholics]. 660 45

The Wernicke-Korsakoff syndrome is induced by thiamine deficiency. It occurs mainly in subjects with chronic alcoholism. It begins with an acute phase (Wernicke's encephalopathy) and changes to a chronic phase, which is characterized by a symptomatology varying from subclinical findings to a fully developed Korsakoff psychosis. We examined otoneurologically eight patients with Wernicke-Korsakoff syndrome. The examination included: clinical status, caloric stimulation, optokinetic nystagmus, pure tone audiogram (air- and bone conduction), speech audiogram, and brain-stem auditory evoked potentials. The typical findings of the chronic phase are: gaze nystagmus and reduced gain of the optokinetic nystagmus. In five of seven patients OK gain was reduced by more than two standard-deviations. The other examinations including brain-stem potentials did not reveal any specific findings. The symptomatology of the acute phase is well known: nystagmus (mostly lateral gaze nystagmus) and reduced by caloric responses. Early diagnosis of a Wernicke-Korsakoff syndrome is of great importance since its treatment is simple and efficient. The results of a thorough neuro-otologic examination are of considerable diagnostic value, particularly during the chronic phase of the disease.
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PMID:[Neuro-otologic findings in the Wernicke-Korsakoff syndrome]. 685 27

We studied 55 cases of cerebellar atrophy identified by computerized tomography. Atrophy was determined by subjective assessment and objective measurements (superior cerebellar cistern, fourth ventricle, and brainstem). Different patterns of cerebellar atrophy were related to clinical diagnoses. A high incidence of vermal atrophy was observed in primary cerebellar degeneration and chronic alcoholism. More than half the patients with alcoholism had hemispheral atrophy. Vermal atrophy and enlargement of superior cerebellar cisterns (but not hemispheral atrophy) were associated with carcinomatous cerebellar degeneration. Atrophy caused by chronic phenytoin usage showed a specific pattern of enlargement of the cisterna magna, cerebellopontine angle, and superior cerebellar cisterns. Supratentorial atrophy was increased significantly only in the alcoholics. In general, limb ataxia, dysarthria, and nystagmus were related to hemispheral but not to vermal atrophy.
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PMID:Cerebellar atrophy demonstrated by computed tomography. 697 16

Magnesium deficiency may complicate many diseases. The causes include the following: inadequate intake during starvation or increased requirement during early childhood, pregnancy, or lactation; excessive losses of magnesium as a result of malabsorption from the gastrointestinal tract or from the kidneys during use of diuretics; and to a combination of the two, as in alcoholism. Most often the etiological factors have been operative for a month or more. Acute hypomagnesemia can occur without previous Mg deficiency after epinephrine, cold stress and stress of serious injury or extensive surgery. The clinical manifestations depend on the age of the patient and may begin insidiously or with dramatic suddenness, or there may be no overt symptoms or signs. The manifestations can be divided into the following categories: totally non-specific symptoms and signs ascribable to the primary disease; neuromuscular hyperactivity including tremor, myoclonic jerks, convulsions, Chvostek sign, Trousseau sign (rarely), spontaneous carpopedal spasm (rarely), ataxia, nystagmus and dysphagia; psychiatric disturbances from apathy and coma to some of all facets of delirium; cardiac arrhythmias including ventricular fibrillation and sudden death; hypocalcemia which is responsive only to Mg therapy; and hypokalemia which is not easily nor completely corrected without Mg therapy. The diversity of etiologies and the multiplicity of manifestations result in confusion and controversy. The documentation of normal renal function is absolutely necessary for maximum doses. The order of magnitude of dose is 1.0 meq Mg/kg on day 1, and 0.3 to 0.5 mEq/kg per day for 3 to 5 days. In emergencies such as convulsions or ventricular arrhythmias, a bolus injection of 1.0 gm (8.1 meq) of MgSO4 is indicated. Therapy of Mg deficiency in the presence of renal insufficiency requires smaller doses and frequent monitoring. Complete repletion occurs slowly.
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PMID:Magnesium deficiency. Etiology and clinical spectrum. 702 Mar 47

The case of a chronic alcoholic patient with Wernicke's encephalopathy accompanied by passing blindness is reported and the alcoholic amblyopia is discussed in this study. The patient was a 39 year-old male who had been a heavy drinker for 13 years, and was habitually inebriated for the last one year. Disturbance of consciousness ataxia of gait, nystagmus and blindness were manifested on admission. Decreased level of serum vitamin B1 was also recognized at admission. The symptoms diminished from about a month after admission except for horizontal nystagmus. Since the patient had racket-like scotoma in his central visual field, his blindness was thought to be alcoholic amblyopia. Although alcohol dependence is associated with many physical disabilities, there are few reports about Wernicke's encephalopathy with alcoholic amblyopia. This case demonstrates the importance of careful physical examination for understanding alcohol-related disabilities and alcohol dependence.
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PMID:[A case of Wernicke's encephalopathy which accompanied a passing blindness]. 819 11

Two cases of alcoholic cerebellar degeneration with pyramidal sign were reported. Patient 1 with alcohol dependence syndrome was a 46-year-old woman. After the alcohol abuse of about eight years, she complained of gait disturbance. The gait disturbance progressively worsened in about two months and she could not ambulate freely by herself. Neurological examination revealed nystagmus, ataxic and spastic gait, slight weakness and spasticity of the lower extremities, hyperreflexia of the extremities, bilateral Babinski's signs, and incoordination of the lower extremities. Examination of liver function and serum B12 was normal. Cranial CT scan and MRI revealed atrophy of the cerebellar vermis and dorsal part of the cerebellum. Though neurological signs slightly improved after the admission to our hospital and the abstinence from alcohol abuse, ataxic gait and hyperreflexia of the extremities have continued. Patient 2 was a 58-year-old man. He was a heavy drinker, but was not a patient with alcohol dependence syndrome. After the heavy drinking of about 40 years, he complained of gait disturbance. The gait disturbance had progressively worsened in about four months. Neurological examination revealed ataxic gait, hyperreflexia of the lower extremities, and bilateral Babinski's signs. Laboratory examination revealed slight liver dysfunction with minimal GPT and moderate gamma-GTP elevation. Examination of serum B12 was normal. Cranial CT scan and MRI revealed atrophy of the cerebellar vermis. Though bilateral Babinski's signs disappeared after the abstinence from heavy drinking, ataxic gait and hyperreflexia of the lower extremities have continued. Alcoholic myelopathy without hepatic cirrhosis was rarely reported. In the relation of alcoholic cerebellar degeneration to alcoholic myelopathy, our cases are interesting and important.
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PMID:[Alcoholic cerebellar degeneration with pyramidal sign--in relation to alcoholic myelopathy]. 847 68

Thiamine deficiency is known to lead to certain neurological sequelae including Wernicke- Korsakoff encephalopathy. Signs attributable to this condition include ataxia, ophthalmoplegia, nystagmus, and mental confusion. Recognised predisposing conditions include alcoholism gastric carcinoma, pyloric obstruction, hyperemesis gravidarum, and prolonged intravenous feeding. We have recently encountered two cases of Wernicke's encephalopathy after vertical banded gastroplasty for morbid obesity . Other neurological sequelae are recognised after vertical banded gastroplasty, including Guillain-Barre syndrome, psychosis, and pseudoathetosis, but the causes are multifactorial.
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PMID:Wernicke's encephalopathy after vertical banded gastroplasty for morbid obesity. 863 78

The clinical neurological and electroneuromyographycal examination were performed in 75 patients with chronic alcoholism including 15 patients with abstinence (withdrawal) syndrome. The abstinence period without any alcohol consumption did not last more that 6 days before observation time. The clear, specific neurological symptoms were revealed in alcohol abstinence syndrome (AAS), exactly: the general brain disturbances in the form of headache, dizziness, horizontal small-swinging nystagmus, dynamic ataxia, the increase of tendinous reflexes preferentially from upper limbs, the tremor of head, tongue and of streched out arms fingers, the sympathic adrenal type vegetative disturbances. The increase of impulse conduction rate along the median nerve as well as elevation of craniocaudal coefficient and neuromuscular conduction disturbances were also characteristic for AAS.
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PMID:[Neurological and neurophysiological aspects of the alcohol abstinence syndrome]. 878 80


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