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)

Twenty-four patients with leukemia or lymphoma refractory to conventional chemotherapy were given a course of systemic, high-dose cytosine arabinoside (3 gm/m2 every 12 hours for twelve doses). Four patients developed cerebellar degeneration during treatment. Ataxia of gait and limb movements, dysarthria, and nystagmus appeared five to seven days after the first dose, worsened over the next two to three days, and then remained stable for two to six days. Incomplete improvement occurred over the following one to two weeks. Postmortem examination disclosed loss of Purkinje cells in the depths of cortical sulci with relative preservation of those at the crests of folia and those in the most posterior inferior portions of the cerebellum. Other patients developed a mild, reversible cerebellar syndrome over the same time course as that of the irreversible disorder. Manifestations ranged from nystagmus alone to dysarthria and unsteadiness of gait without limb ataxia. We conclude that cytosine arabinoside at this dosage causes a cerebellar degeneration with characteristic clinical and pathological features. Among the present patients with refractory hematological malignancies, such degeneration occurred with an incidence of 16.7%, more than twice that reported in previous series.
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PMID:Cerebellar degeneration caused by high-dose cytosine arabinoside: a clinicopathological study. 665 Dec 39

Thirty-eight patients who ingested ethchlorvynol were seen at our institution over an 8.7 year period. Eleven involved ethchlorvynol alone ("pure") while the remainder included at least one other drug ("mixed"). Twenty-three of the patients were women. Six patients required hospitalization. Five patients were chronic users of the drug. Admission ethchlorvynol blood concentrations ranged from 3 to 46 mg/L ("pure") and from 3 to 75 mg/L ("mixed"). For the "pure" cases the most common physical findings were depressed level of consciousness (10 cases), dysarthria (7), mydriasis (6), nystagmus (6), areflexia (4), tachycardia (4), and hypotension, ataxia, and respiratory depression (2 cases each). Following "pure" ingestion, ethchlorvynol concentrations greater than 19 mg/L were usually associated with dysarthria, mydriasis, nystagmus, and tachycardia. When concentrations exceeded 38 mg/L, coma, areflexia, hypotension, and respiratory depression were generally noted as well. All patients recovered with supportive care alone.
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PMID:Ethchlorvynol ingestion: interpretation of blood concentrations and clinical findings. 667 79

Five additional cases of ataxic-hemiparesis are reported. In 3 cases, computed tomography showed an area of decreased attenuation in the posterior limb of the internal capsule, and in 1 case, 2 areas of attenuation in the corona radiata. A review of previously reported cases suggest that brainstem ataxic-hemiparesis may be separated from supratentorial forms of ataxic-hemiparesis by the presence of nystagmus, dysarthria, cranial neuropathy, and the absence of sensory abnormality.
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PMID:Ataxic-hemiparesis, localization and clinical features. 670 44

Electro-oculographic recordings (EOG) were made on 26 patients with Machado-Joseph disease or at genetic risk for that disease. All patients with clinically apparent disease (ataxia, dysarthria, spasticity, or ophthalmoparesis) had abnormal eye movements. Defects in caloric response, sinusoidal tracking, opticokinetic nystagmus (OKN), refixation saccades, and presence of gaze paretic nystagmus were detected in that order of frequency. Fourteen subjects were clinically at risk but had normal neurologic examinations or minor equivocal signs. Nine of the fourteen had abnormal EOG, with sinusoidal tracking, calories, refixation saccades, OKN, and gaze paretic nystagmus being abnormal in that order. EOG may be useful in early case detection and may contribute to genetic counseling.
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PMID:Electro-oculographic findings in Machado-Joseph disease. 689 Jan 62

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

A 37-year-old woman developed an early-delayed rhombencephalopathy 7 weeks after completing a course of radiotherapy to a glomus jugulare tumour. The clinical features, comprising nystagmus, skew strabismus, unilateral facial weakness, dysarthria and ataxia, are compared with four previously reported patients with this syndrome.
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PMID:Early-delayed radiation rhombencephalopathy. 708 49

Only few cases with prolonged cerebellar symptoms after toluene sniffing have previously been reported. We describe here an 18-year-old female who inhaled pure toluene since the age of 12. She developed neurological symptoms with broad-based ataxic gait, incoordination of arms and legs, unsteadiness, dysarthria, downbeat nystagmus, bilateral positive Babinski sign, and poor concentration and abstracting ability. During her 5 weeks in hospital when she did not inhale toluene, her symptoms persisted but decreased and after 8 months had disappeared.
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PMID:Cerebellar dysfunction related to toluene sniffing. 721 Nov 69

In the present survey, we investigated the side effects of anticonvulsants in 248 epileptics who had been taking medicine for a long time. About half of the patients had been given anticonvulsant treatment for more than 11 years. The main results were as follows: Subjective symptoms: many kinds of gastrointestinal symptoms, general fatigability and sleepiness. slight pain in bones, joints or muscles and headache were found. Neurological symptoms: finger tremor at rest, diminished or decreased ankle reflex, and cerebellar symptoms such as ataxic gait, dysarthria, nystagmus and diplopia were found. Other clinical symptoms: gingival hyperplasia, hirsutism, dermatitis and edema were observed. Biochemical examinations: indicated that the total bilirubin was decreased in 4.4%, serum AL-P was elevated in 26.2%, the total serum cholesterol increased above 200 mg/dl in 17.7% and decreased below 150 mg/dl in 8.9%, and serum P and K were reduced in 31.5% and 2.4%, respectively. Hypocalcemia was found in only four cases (1.6%). Hematological examinations: serious disturbances were not found in hematopoietic functions, although prothrombin time was delayed in 18 of 40 patients examined.
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PMID:Study of the side effects of long-term anticonvulsant treatment. 721 11

Although intravenous phenobarbital loading is effective in barbiturate withdrawal, controlled infusions of a drug are inconvenient. To develop a practical and more widely applicable method, oral loading doses of phenobarbital were given to 21 barbiturate addicts, whose estimated mean daily intake of barbiturates was 1 gm (range 0.5 to 4 gm). Twelve had a past or present history of barbiturate withdrawal seizures. Phenobarbital was given orally at a rate of 120 mg/hr until a predetermined clinical end point of phenobarbital effect was achieved. This end point was the presence of at least three of the following: nystagmus, drowsiness, ataxia, dysarthria, or emotional lability. The total phenobarbital loading dose (mean +/- SD) was 23.4 +/- 7.1 mg/kg, median phenobarbital concentration after loading was 35.9 mg/l (range 13.2 to 71.6 mg/l), and median half-life (t 1/2) of phenobarbital was 90 hr (range 38 to 240 hr). One patient with t 1/2 = 38 hr was given supplemental doses of phenobarbital. None developed seizures or other evidence of barbiturate withdrawal.
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PMID:Barbiturate and hypnosedative withdrawal by a multiple oral phenobarbital loading dose technique. 723 1

The clinical features of 115 patients from 90 families with Friedreich's ataxia are described. Onset of symptoms was before the age of 25 (mean 10.52) years in all the index cases. An analysis of early cases suggested that limb and truncal ataxia and absent tendon reflexes in the legs were the only consistent diagnostic criteria within five years of presentation. Dysarthria, signs of pyramidal tract dysfunction in the legs and loss of joint position and vibration sense are not necessarily present during the first five years of symptoms, but appear to develop eventually in all cases. Scoliosis and ECG evidence of cardiomyopathy were found in over two-thirds of the patients studied; pes cavus, distal amyotrophy, optic atrophy, nystagmus and deafness were all less frequent. The disorder was gradually progressive in all cases. The mean age of losing the ability to walk was 25 years; 95 per cent were chair-bound by the age of 44 years. About 10 per cent of the patients had diabetes mellitus which was controlled by oral hypoglycaemic drugs in one quarter. Diabetes appeared to be associated with a higher incidence of optic atrophy and deafness. Diabetes also clustered within sibships; the risk of an individual with Friedreich's ataxia developing diabetes if an affected sib has it is over 40 per cent. Similarly, cardiomyopathy ran true within affected members of the same sibship, but there were instances of discordance which suggest that the development of the non-neurological features of Friedreich's ataxia may be controlled by modifying genes rather than heterogeneity of the main gene. Segregation analysis and an increased consanguinity rate amongst parents of patients (5.55 per cent) confirmed that this disorder is of autosomal recessive inheritance. A study of 101 first degree relatives of the patients with Friedreich's ataxia failed to demonstrate any neurological or electrocardiographic abnormalities which could be ascribed to the heterozygous state.
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PMID:Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. 727 14


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