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 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.
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PMID:Familial subacute necrotizing encephalomyelopathy of the adult form (adult Leigh syndrome). 23 Jul 81

Senegalese baboons (Papio papio), with a natural syndrome of photosensitive epilepsy, consistently show generalized myoclonic jerks if stimulated stroboscopically at hourly intervals, two to eight hours after the intravenous administration of allylglycine, 200 mg/kg. This provides a model for testing the acute antiepileptic effects of established or new drugs. The relationship between concentration of drug, antiepileptic action, and acute neurological toxic effects can be studied. Pnehobarbital (15 mg/kg) and diazepam (0;5 to 1.5 mg/kg) were highly effective in the absence of signs of toxic reaction (plasma levels: phenobarbital sodium, 0.7 to 1.7 mg/100 ml; diazepam, greater than 0.5 mug/ml). After administration of carbamazepine (30 to 40 mg/kg) and diphenylhydantoin sodium (40 to 50 mg/kg), antiepileptic action was seen, but was accompanied by severe toxic signs (nystagmus and ataxia). Sulthiame (20 to 125 mg/kg) and ethosuximide (50 to 100 mg/kg) had little antiepileptic activity and no acute toxic effects. This primate model may aid the identification of new drugs that are active against grand mal seizures and status epilepticus.
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PMID:A primate model for testing anticonvulsant drugs. 23 98

An anticonvulsant action of ketamine, a noncompetitive N-methyl-D-aspartate (NMDA) antagonist (5-40 mg/kg IP), on the bicuculline-induced (3-8 mg/kg IP) or picrotoxin-induced seizures (3-6 mg/kg IP) was assessed in male Wistar rats aged 7, 12, 18, 25 and 90 days. Ketamine alone caused moderate ataxia which was more pronounced in younger animals. In combination with both aforementioned convulsants, ketamine exerted anticonvulsant effects against generalized tonic-clonic seizures in all developmental stages studied. This effect was more pronounced in bicuculline-treated animals. Moreover, ketamine also suppressed the lethality induced by both drugs during all the development. On the contrary, the action of ketamine on minimal (clonic) seizures was moderate or absent. Our results suggest an important role of ketamine-affected transmission in the generation of the generalized tonic-clonic seizure pattern; moreover, an action of high doses of ketamine on GABA-A receptors might be present.
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PMID:Ketamine suppresses both bicuculline- and picrotoxin-induced generalized tonic-clonic seizures during ontogenesis. 209 70

1. The effects of the benzodiazepine receptor antagonists Ro 15-1788 (flumazenil) and the beta-carboline ZK 93426 were compared in dogs before and after chronic treatment with diazepam. 2. In diazepam-naive dogs, the most prominent behavioural alterations occurring during or after i.v. infusion of Ro 15-1788 up to a dose of 20 mg kg-1 were transient sedation, ataxia, and 'hot foot' behaviour, whereas behavioural alterations observed after ZK 93426 were not different from those observed after i.v. infusion of vehicle alone. This indicates that, in contrast to Ro 15-1788, ZK 93426 did not exert partial agonistic activity at benzodiazepine receptors. 3. In dogs treated 3 times daily with diazepam, 1 mg kg -1 orally, for 1 week, both benzodiazepine antagonists precipitated abstinence symptoms but the number and severity of withdrawal signs induced by Ro 15-1788 were greater than with ZK 93426. 4. In dogs treated 3 times daily with diazepam, 2 mg kg-1 orally, for 2 weeks, severe abstinence symptoms were precipitated in all animals by infusion of either antagonist but differences were found in the type of the symptoms: Ro 15-1788 induced rigid postures or rigid walking with increased muscle tone, tremor, twitches and jerks, whereas ZK 93426 did not alter motility but induced generalized myoclonic jerks and tonic-clonic seizures. A generalized tonic-clonic seizure was also observed in one dog of the trial with infusion of Ro 15-1788. 5. Plasma level determinations during chronic treatment diazepam showed marked accumulation of the major active metabolite desmethyldiazepam, whereas diazepam levels were at least 15 times lower, which might suggest that desmethyldiazepam was responsible for the development of physical dependence on diazepam.
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PMID:Physical dependence on diazepam in the dog: precipitation of different abstinence syndromes by the benzodiazepine receptor antagonists Ro 15-1788 and ZK 93426. 256 47

A severely mentally retarded girl who suffered from grand mal seizures, myoclonic jerking and ataxia died at 18 years of age. Chromosome studies, before and after death revealed a fragile site on chromosome 2q13, the expression of which was greater in peripheral blood than in fibroblasts on two occasions. Post mortem findings did not reveal any abnormality which could be attributed to this fragile site.
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PMID:Post mortem findings in a patient with 46,XX,fra(2)(q13). 292

Progressive myoclonus epilepsy without Lafora's bodies (PME) is a rare inherited disease found predominantly in Finland, where the incidence is one case per 20,000 to 30,000 children. This fatal disease is characterized by normal early development, progressive stimulus-sensitive myoclonus, ataxia, dysarthria, occasional grand mal seizures, and loss of cerebellar Purkinje cells. Concentrations of gamma-aminobutyric acid in the CSF averaged 89 +/- 10 pmole/mL (mean +/- SE) in eight patients with PME, compared with 135 +/- 18 pmole/mL in ten control patients. The concentrations of adenosine (16 pmole/mL v 17 pmole/mL), inosine (560 pmole/mL v 570 pmole/mL) and hypoxanthine (6.2 nmole/mL v 6.1 nmole/mL) were the same in patients with PME and in controls.
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PMID:Concentrations of gamma-aminobutyric acid and adenosine in the CSF in progressive myoclonus epilepsy without Lafora's bodies. 641 68

Spirogermanium is a new azaspirane antitumor agent, with the metal germanium substituted for a one-carbon moiety in the ring structure. This drug inhibits DNA and RNA synthesis in HeLa cells, is cytotoxic in vitro, and has curative in vivo antitumor activity against the ascitic Walker 256 carcinosarcoma in rats. No hematologic toxicity was recorded during the preclinical toxicologic evaluation. The principal clinical toxic effects observed in this phase I trial were neurologic, manifested as lethargy, dizziness, and ataxia, while a grand mal seizure was produced after an accidental overdose. There was no evidence of hematologic, renal, or hepatic toxicity. A partial response was achieved in a patient with a well-differentiated lymphocytic lymphoma. We recommend that phase II trials be conducted with a twice or thrice weekly dose of 50-80 mg/m2, administered in a 30-minute iv infusion.
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PMID:Phase I clinical trial of spirogermanium. 745 90

We report a case of multiple sclerosis which began at the age of 12 years. Clinical symptoms at onset were acute, regressive cerebellovestibular ataxia and optic neuritis. Twenty-four years later vertigo, motor and sensory deficit of the right lower limb and grand mal seizures developed. CSF and MRI were suggestive of multiple sclerosis. The patient is now free of neurological symptoms with an 8 years' follow-up.
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PMID:[Benign multiple sclerosis with childhood onset]. 786 56

The patient first noticed general muscle stiffness at the age of 36. Two years later, she suffered from a tonic-clonic seizure which brought her to a hospital for the first time. Choreoathetoid movement, ataxia and cognitive deficit were apparent. At the age of 44, tonic-clonic seizures became more frequent and she was admitted to our hospital as being status epilepticus. After the cessation of clinical seizures, she became appllic. Gradual increase of atrophic changes in cerebrum, cerebellum and brain stem were observed by MRI and CT. Hematological study showed that she had abnormal hemoglobin, Hb Takamatsu. Four of her five children were clinically examined; all of them showed abnormal EEG findings; three being mentally retarded and had clinical generalized convulsive seizures; two had hemoglobinopathy (Hb Takamatsu). The patient died from sepsis at the age of 50 and the autopsy was carried out. The brain weighed 930 gram. Histological findings confirmed the diagnosis of dentato-rubro-pallido-luysian atrophy; neuronal loss accompanied by gliosis in dentate nuclei, red nuclei, lateral part of globus pallidus, and subthalamic nuclei. The coincidence of the hereditary traits of two independent diseases, DRPLA and familial hemoglobinopathy (Hb Takamatsu) suggests closeness of their genetic loci.
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PMID:[A familial case of DRPLA diagnosed by an autopsy associated with hemoglobinopathy (Hb Takamatsu)]. 825 33

Tumor-associated hypoglycemia has been reported in dogs with pancreatic beta-cell tumors, hepatic tumors, and, rarely, with other neoplasms. This article describes 4 dogs with marked hypoglycemia associated with smooth muscle tumors (jejunal leiomyoma, gastric leiomyoma and leiomyosarcoma, and splenic leiomyosarcoma). Presenting clinical signs included grand mal seizures, lethargy, weakness, ataxia, and, in 1 dog, polyuria/polydipsia. The serum insulin concentration was low in 1 dog and normal in the other dog evaluated. Immunohistochemical staining for insulin was negative in the 4 tumors; the 3 tumors arising from the stomach and jejunum stained diffusely positive for glucagon. Blood glucose concentrations rapidly returned to normal after complete surgical resection of the tumors, and clinical signs associated with hypoglycemia resolved. Long-term follow-up available in 3 of the 4 dogs found no recurrence of clinical signs related to hypoglycemia at 15, 31, and 38 months after surgery, respectively.
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PMID:Hypoglycemia in four dogs with smooth muscle tumors. 855 89


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