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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A family--mother and 2 sons--with a heredodegenerative neurological disease is described. The disease started with bilateral optic atrophy, central scotoma, and color blindness during the second decade. This was followed by a quiescent period until additional neurological symptoms appeared, around the age of 50 years in the case of the mother and 40 and 30 years, respectively, in the sons. The additional symptoms were ataxia, spastic paresis, clonic jerks, grand mal seizures, psychia lability, and slight dementia. The disease was progressive, resulting in permanent hospitalization within a few years. The mother died at the age of 63 years and the sons at 46 and 43 years of age. Neuropathological examination revealed lesions histopathologically characteristic of subacute necrotizing encephalomyelopathy (SNE, Leigh disease), and their distribution in the brain and brainstem also conformed to this disease. On the basis of the clinical course and neuropathological findings, we consider that these 3 patients represent the first reported familial cases of the adult form of SNE.
Ann Neurol 1979 Sep
PMID:Familial subacute necrotizing encephalomyelopathy of the adult form (adult Leigh syndrome). 23 Jul 81

(1) Methods have been developed to measure, analyse and document postural sway. The main parameters studied were: average sway amplitude; length of the sway path per unit time; sway direction and sway position histograms; and the frequency spectra of the antero-posterior and lateral sway components. (2) Postural ataxia was quantitatively studied in three groups of patients with cerebellar lesions: (a) late atrophy of the anterior lobe, (b) tumours of the cerebellar hemisphere and (c) tumours within the vestibulo-cerebellum. Characteristic differences were found. (3) Patients with anterior lobe lesion show a specific 3 Hz postural tremor in the antero-posterior direction. The tremor can be evoked by sudden destabilization in incipient cases. Less characteristic and smaller in amplitude is a mainly lateral sway component with an average frequency of 0.5 Hz. This is also seen in cases with spinal ataxia. Visual stabilization of posture is frequently preserved. Its amount does not correlate with general instability of posture. Tremor and characteristically exaggerated intersegmental responses between head, trunk, hips and legs are interpreted as the consequence of hyper-excitability of postural reflexes in these patients. (4) Patients with lesions of the hemispheres show only slight postural instability without directional preference. Their sway parameters with eyes open are within the 2 sigma range of normals and there is no significant difference from normals in these parameters even when the eyes are closed. Therefore these patients cannot be distinguished from normals by means of their platform recordings. (5) Two patients with posterior vermal and flocculo-nodular lesions were very unstable without preferred axis or frequency of instability. In contrast to the anterior lobe group the instability was characterized by the absence of intersegmental movements.
Brain 1979 Sep
PMID:Quantitative analysis of stance in late cortical cerebellar atrophy of the anterior lobe and other forms of cerebellar ataxia. 31 55

Ten patients, suffering from affective disorders, were treated with carbamazepine for polyuria and polydipsia associated with long-term lithium therapy. Oral carbamazepine (300--600 mg daily for six weeks) was observed to have no beneficial effect in alleviating these symptoms when compared with placebo tablets in a double blind crossover study. Plasma and urinary osmolality were observed to be within normal range in these patients and there was no antidiuretic response following subcutaneous Pitressin injection. There was 50% drop-out due to severe side-effects like ataxia, dizziness, restlessness and confusional states. It appears that lithium exacerbates carbamazepine induced CNS side-effects or vice versa, the mechanism of which is not very clear. It may be due to their mutual effect on sodium metabolism or on nervous conduction velocity. Hence, simultaneous administration of these two drugs should preferably be avoided.
Pharmakopsychiatr Neuropsychopharmakol 1978 Sep
PMID:Effect of carbamazepine in polyuria associated with lithium therapy. 36 Feb 49

A patient with congenital lactic acidosis, muscular hypotonia and severe ataxia is reported. The aetiology of his disease was found to be a deficiency of pyruvate dehydrogenase (E.C. 4.1.1.1.). Thiamine treatment (1.8 g/day) was successful in correcting biochemical and clinical symptoms. The mechanism of its action is probably based on activation of pyruvate dehydrogenase through interference in the physiologic regulation.
Agents Actions 1977 Sep
PMID:Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency. 41 46

Two members of a family suffer from recurrent attacks of either vertigo or cerebellar incoordination. The occurrence of these two distinct types of attack in the same patient may reconcile the disparate features of previously reported cases of familial periodic ataxia. The finding of downbeating nystagmus suggests a medullary disturbance. As in a previously reported family, the attacks were relieved by acetazolamide.
Arch Neurol 1979 Sep
PMID:Familial periodic ataxia. 47 21

Mannosidosis, an inherited lysosomal storage disease, was diagnosed in two purebred Angus calves in the United States. Calf 1 was 5 months old and calf 2 was 7 months old when they were necropsied. Both calves had a history of progressive incoordination and ataxia. Gross postmortem findings included moderate hydrocephalus. Histologic examination revealed intracytoplasmic vacuolation of neurons throughout spinal cord and brain as well as in exocrine pancreatic cells, reticuloendothelial cells of the liver, and medullary sinusoids of lymph nodes. Biochemical study of 61 blood samples from the first calf's herd revealed bimodal distribution of enzyme activity for mannosidase. Two populations could be distinguished in that herd, those with normal mannosidase activity and those heterozygous for the disease.
J Am Vet Med Assoc 1979 Sep 01
PMID:Mannosidosis of Angus calves. 50 Apr 78

In order to study the interactions between serotonergic mechanism and electrical stimulation of the mesencephalic central gray substance, rats were trained to lever-press for terminating aversive electric stimuli applied at the Periaqueductal gray and adjoining tectum of the mesencephalon. Experimental sessions consisted of 40 discrete escape trials of a maximum of 30 sec duration, separated by 30 sec intervals. Dose-effect curves of two tryptamine antagonists, cyproheptadine and methysergide, as well as of the benzodiazepine minor tranquilizer, chlordiazepoxide, on average escape latencies and on frequency distribution of individual latencies were determined. Doses of 3 to 10 mg/kg of cyproheptadine decreased average latencies of escape responding in six of eight rats studied. Doses of 10 and 30 mg/kg of methysergide also facilitated escape responding in one of three rats. In contrast, doses from 1 to 10 mg/kg of chlordiazepoxide, that cause little sedation or ataxia, produced dose-dependent increases in escape latencies. Furthermore, doses of 5.6 and 10 mg/kg of chlordiazepoxide partially blocked escape responding. The facilitatory effects of the tryptamine antagonists suggest that escape behavior is inhibited by brain tryptaminergic mechanisms, whereas the specific depressant effect of chlordiazepoxide on escape from Periaqueductal gray electrical stimulation suggest that this region may be involved in the antianxiety action of benzodiazepines.
Pharmacol Biochem Behav 1978 Sep
PMID:Role of the periaqueductal gray substance in the antianxiety action of benzodiazepines. 56 4

Four-week old broiler chickens were fed rations with varying levels of technical grade DDT for a 4-week period. DDT and metabolite concentrations were measured in adrenal, liver, and brain. Accumulations per gram of tissue were greatest in the adrenals, followed by those in the liver, then in the brain. All birds fed 2700 p.p.m. of DDT died with 12 days after beginning feeding, and moderate signs of toxicity, such as ataxia and trembling, appeared in those fed 900 p.p.m. Although both DDT metabolites, p,p'-DDE and p,p'-DDD, were found in the tissues, the higher levels of the former indicated that the aerobic conversion of DDE occurs more readily than the anaerobic conversion. Significant quantities of o,p'-DDT appear only in tissues of birds fed high levels of the technical grade DDT.
Poult Sci 1977 Sep
PMID:DDT and metabolite accumulation in adrenal, liver, and brain of broiler chickens. 60 4

Outcomes in self-care following rehabilitation in 226 patients were correlated with 11 stroke syndromes, reflecting several pathophysiologic disturbances subsequent to either infarction or hemorrhage in cerebral or vertebro-basilar vessels. Self-care was scored on a 20-point scale for bed movements, transfers, feeding, dressing, personal hygiene, and bathing. Interjudge error among therapists did not exceed 2.5%. Mean score in left cerebral infarction without aphasia was used as a referent value. Scores in left cerebral infarction with aphasia and right parietal lobe syndrome with and without spatial agnosia were similar to the referent. Brain stem dysfunction with spasticity and right cerebral infarction with paresis and spatial agnosia fell below the referent value (Pless than 0.05). Higher levels were achieved in the syndromes of left and right anterior cerebral artery territories, brain stem dysfunction with ataxia, and left parietal lobe syndrome with comprehension aphasia, although t-values were not significant. Length of stay among the 11 groups was fairly uniform except for the group with brain stem dysfunction with spasticity and the group with left hemiplegia with spatial agnosia. These groups indicated rather severe disabilities. Aside from neurologic dysfunction the range of scores was influenced by associated cardiopulmonary involvement.
Arch Phys Med Rehabil 1978 Sep
PMID:Neurophysiologic syndromes in stroke as predictors of outcome. 68 54

There are inherent difficulites in the rehabilitation of patients with multiple sclerosis (MS). The clinical manifestations of the disease vary tremendously, as does its natural course. The many theories on the etiology, pathogenesis and treatment of MS are presented. However, at the current time, the patient with MS may be treated with the realistic goal of minimizing the effects of the disease. This is accomplished best in a rehabilitation setting. Diagnosis, prognosis, and factors associated with precipitaiton or exaggeration of symptoms, are discussed. Specific techniques of rehabilitation of decreased motor power, spasticity, ataxia and intention tremor, speech and optic defects, and impaired sensation are presented. Decubiti and ulcerations, bladder and bowel problems, and sexual dysfunction are recognized as common problems and attention must be directed to these. The importance and wide array of emotional difficulties in patients with MS is emphasized, and those patients who may benefit from psychotherapy are discussed.
Arch Phys Med Rehabil 1978 Sep
PMID:Rehabilitation of patients with multiple sclerosis. 68 58


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