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)

The authors report 4 cases of the morbid familial association revealing itself late in life (average age 37.7 years) including multiple basal cell carcinomas of the face and neurological and psychiatric symptoms, the most complete examples of which were severe, including mixed cerebello-spinal ataxia, involvement of the anterior horns of the spinal cord, a pyramidal syndrome and extra-pyramidal syndrome, abolition of the osteo-tendinous reflexes, dementia, paralysis of certain cranial nerves. These are associated constantly with increased glucose concentration in the cerebro-spinal fluid and dilatation of the cerebral ventricles. The course is unusual. The skin signs always occur first. There is a definite parallel between the severity of the skin involvement and that of the central nervous system. A neuropathological study of one case (case 2) showed lesions of degenerative type resembling spino-cerebellar degeneration of Menzel type with supramedullary diffusion to the locus niger, locus coeruleus, cranial nerves and thalamus. From these clinical and pathological findings, the authors noted an original pathological and clinical entity and consider certain diagnostic and pathological problems. The precise relationship between the skin and nervous lesions is unknown, but may be due to abiotrophic processes. Concerning the classification, this disease should not be included among the phacomatoses for there is no biastema tendency, and should be included among the more general group of neuro-cutaneous dystrophies or genoneurodermatoses.
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PMID:[Association of multiple basal cell carcinomas of the face and spinocerebellar degeneration. Study of 4 familial cases including an anatomo-clinical description]. 17 21

113 cases of accidental ingestion of cyproheptadine (Nuran) by children have been evaluated. Life threatening alterations have not been observed after doses ranging from 0.3-6.15 (x:1.89) mg per kg of body weight. Somnolence, excitation, hallucinations, ataxia, tachycardia, and muscle twitchings were observed frequently, and occasionally gastric pain, dry mucuous surfaces, mydriasis, and rubeosis of the face were present. Symptoms appeared rapidly after ingestion and generally did not last longer than 6-12 h. When given in therapeutic doses, cyproheptadine reduces the secretion of ACTH, cortisol, prolactin, and growth hormone, lowers blood glucose concentrations, and raises the levels of unesterified free fatty acids. Parents frequently complain about unsatisfactory eating habits of their children, but chronic lack of appetite needing therapeutical attention, in healthy children, is the rare exception. Cyproheptadine is an agent with considerable side effects, and it should be prescribed to children only after very careful deliberation.
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PMID:[Toxicity of cyproheptadine. Side effects and accidental overdosage (author's transl)]. 64 45

Twenty-seven sheep were assigned to three groups in order to study acute urea toxicity. Groups I, II and III were dosed with 0.5, 0.6 annd 0.75 g/kg of urea, respectively. The mean survival times were 165, 109 and 60 minutes, respectively. The following clinical signs such as pronounced muscle fasciculation, trembling, grinding teeth, ataxia, lateral recumbency, bloating, regurgitation, hyperesthesia, mydriasis and convulsions were observed. Anuria and lack of salivation were also present. The primary cause of death in this study was due to respiratory arrest and not cardiovascular collapse. Plasma examinations showed a marked increase in glucose, ammonia and urea levels but no change in ketone body concentration.
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PMID:Acute urea toxicity in sheep. 64 59

Rats rendered diabetic by alloxan monohydrate were studied to investigate the effect of increased blood glucose upon the concentration of various putative neurotransmitter amino acids in the cerebellum. No modification was found in the concentrations of glutamate, gamma aminobutyric acid (GABA), glutamine, glycine or taurine, but there was a significant decrease in the cerebellar concentration of aspartate in the diabetic animals. This raises the question of the specificity of the aspartic acid defect found in some form of ataxia.
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PMID:Effect of alloxan diabetes on cerebellar amino acids. 64 90

Two brothers, aged 11 years 6 months and 2 years 3 months, with psychomotor and growth retardation, episodes of weakness, ataxia, ophthalmoplegia, and elevated levels of blood pyruvate were shown to have a deficiency in the pyruvate dehydrogenase complex (PDH). When they ate a diet high enough in fats to cause ketonemia but not acidosis, there was a fall in blood pyruvate levels, a decrease in the frequency and severity of the episodes of neurological deterioration, an increased rate of growth and development in the younger brother, and increased strength and endurance in the older one. The possibility of dietary treatment makes the early diagnosis of PDH deficiency more important. Determination of blood pyruvate and lactate levels following a standard glucose meal (glucose-pyruvate test) appears to be the most reliable screening test for this condition.
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PMID:Ketonic diet in the management of pyruvate dehydrogenase deficiency. 82 10

Our prospective survey of 50 ataxic patients confirms the previous finding of frequent clinical or chemical diabetes in Friedreich's ataxia. Eighteen percent of our typical cases have clinical diabetes and 40% at least an abnormal glucose tolerance curve. However, this finding does not appear to be specific to that form of ataxia. Furthermore, we have shown that most patients with ataxia have normal or low fasting insulin levels, but a hyperinsulinic response to a glucose load.
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PMID:Glucose and insulin metabolism in Friedreich's ataxia. 100 Apr 22

An isolate of Penicillium puberulum, obtained from moldy silage, was found to produce a tremorgenic mycotoxin, penitrem A. Dried ground mycelium of this isolate was administered orally to calves either in increasing daily doses or in a single dose that equalled the amount given over a 3-day period in the increasing daily-dose schedule. Signs of intoxication included tremor, ataxia, muscular rigidity, and convulsive episodes. Marked increases in plasma concentrations of lactic acid, pyruvic acid, glucose, and creatine phosphokinase activity were found coincident with the development of severe tremor. The only gross or microscopic change observed in tissues of intoxicated animals was an accumulation of fat in the liver. Changes in the various plasma constituents were interpreted as a secondary effect of the intoxication.
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PMID:Penitrem A intoxication of calves: blood chemical and pathologic changes. 111 18

A 40-year-old man was admitted after 8 months of speech disturbance and locomotive ataxia. He had no seizures, lightning pains, paresthesia, visual loss, bladder disturbance or rectal incontinence. He had never been neurologically or psychiatrically ill and had no history of syphilis. When the patient was admitted, his general physical examination including blood pressure and dermatologic examination was normal. His consciousness was alert. He was found to have a deterioration of mental status such as inability to concentrate, failing memory, amnesia and circumstantiality. His pupils were anisocoric and Achilles jerks were absent. No rigidity of the neck muscles, paralysis and sensory disturbance were recognized. Romberg's sign was absent. The right pupil was 7.0 mm and the left was 6.0 mm in room illumination. The pupils were nonreactive to bright light and both did not constricted to near stimuli. 0.125% pilocarpine eyedrops produced bilateral pupillary constriction. The results indicated bilateral tonic pupils. Laboratory data revealed white cell count of 12,600/mm3 and normal erythrocyte sedimentation rate of 8 mm/hr. Cerebrospinal fluid (CSF) examination revealed the following: opening pressure, 140 mm of water; cell counts, 76/mm2 (mononuclear cells); total protein, 116 mg/dl; glucose, 57 mg/dl. A serum venereal disease research laboratories (VDRL) test was positive in a 1:32 titer confirmed by positive treponema pallidum hemagglutination (TPHA) test in a 1:40,960 titer and positive fluorescent treponemal antibody-absorption (FTA-ABS) test. Serum TPHA-IgM was positive in a 1:320 titer but TPHA-IgG was negative. CSF examination revealed positive TPHA test (titer of 1:2,560) and positive FTA-ABS test.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of early syphilis presenting general paresis-like symptoms and bilateral tonic pupils]. 130 Feb 74

The authors report the case of an AIDS patient with rare neurologic manifestations: primary vasculitis of the central nervous system and VIII cranial nerve dysfunction. The authors make a review on the subject, and call special attention for the differential diagnosis. In fact, the patient, a 36 year old woman, with promiscuous life, presented with dizziness, gait ataxia, nausea, headache and hypoacusia. Seven days after the admission, she noted blurred vision in both eyes and soon she became blind. The physical examination showed bilateral optic neuritis and vestibulocochlear dysfunction, stiff neck and fever. No abnormalities were detected on CT scan. CSF showed 40 mononuclear cells/mm3, 79 mg/dl of proteins and normal glucose content. Microbiological research was negative. Serum anti-HIV test was positive. The hypothesis of primary CNS vasculitis was made, and pulse methylprednisolone therapy was introduced with good recovery of neurological syndrome except for persistent amaurosis.
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PMID:[Isolated vasculitis of the central nervous system and involvement of the 8th cranial nerve: rare manifestations of acquired immunodeficiency syndrome]. 130 67

Injection of endothelin-1 (9 pmol) into the lateral cerebral ventricle of rats produced barrel-rotations, convulsions, tonic hindlimb extensions, facial clonus, and kinetic ataxia for up to 45 min. Quantitative metabolic autoradiographs produced from the [14C]deoxyglucose method and analyzed over 60 individual brain structures or subregions revealed intense hypermetabolism in periventricular tissues close to the injection site and in many of their efferent projection sites. Histological examination of these areas proved that this dose of endothelin was without toxic or ischemic effects on neurons or glial cells. Structures metabolically affected ipsilateral to injection were caudate nucleus (+164%), lateral septal nucleus (+270%), and two white matter tracts--corpus callosum (+236%) and hippocampal fimbria (+318%). Distant stimulated structures included cerebellar cortical layers, but not cerebellar nuclei or white matter. Increased rates of glucose metabolism among many other nuclei, particularly distinct subunits of the hippocampal formation and structures in contact with the ventricular system, signify that endothelin induced widespread metabolic stimulation over much of the neuraxis. Furthermore, although the 9 pmol concentration of endothelin produced convulsive movements and diverse metabolic stimulation, it did not evoke detectable electroencephalographic seizure activity assessed by intra- or extracerebral electroencephalography. Both the convulsions and hypermetabolic activation were inhibited by intraventricular pretreatment with the dihydropyridine calcium-channel antagonist, nimodipine. The results identify endothelin-1 as a calcium-mediated 'convulsive' peptide with selective stimulatory effects on cerebral glucose metabolism.
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PMID:Cerebral hypermetabolism produced by intraventricular endothelin-1 in rats: inhibition by nimodipine. 132 10


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