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

With the great progress in the imaging technique of cerebro-cerebellar perfusion and metabolism, it has been revealed that supratentorial cerebrovascular disorders often cause some reduction of contralateral cerebellar blood flow and metabolism. The phenomenon, termed crossed cerebellar diaschisis (CCD), is interpreted to be brought about by transneuronal deactivation of cerebellum via the corticopontocerebellar pathway and usually not to accompanied by limb-incoordination. We have experienced 2 cases presenting ataxia clinically and CCD in positron emission tomography (PET) which are thought to be caused by the interruption of two distinctive neural pathways, the corticopontocerebellar and cerebellorubrothalamic pathways. Case 1 was a 34-year-old housewife with cerebral infarction which magnetic resonance imaging disclosed in the left parietal cortex and subcortical white matter. She showed mild right-sided hemiataxia featured by dysarthria, hypermetria, dysrhythmia, decomposition, dysdiadochokinesis and rebound phenomenon. Cheirooral syndrome, a hand-pronation sign and defects of combined sensation were present on the right but not accompanied by any disturbances of deep sensation. PET with 15O-labeled CO2 and O2 demonstrated the left frontoparietooccipital and contralateral cerebellar hypoperfusion and hypometabolism. Case 2 was a 69-year-old female suffering from aftereffects of old thalamic hemorrhage. Neurological examination revealed moderate degree of right-sided hemiataxia suggesting a cerebellar type of dysfunction like in case 1. Muscle power and sensory system were well-preserved. Brain CT revealed a small and restricted low density area in the left posterolateral thalamus indicating destruction of the Vim nucleus. PET study confirmed reduced blood flow and oxygen metabolism in the left thalamus and contralateral cerebellar hemisphere.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Clinical and etiological study of crossed cerebellar diaschisis. Report of two cases]. 261

Cynomolgus macaque monkeys received head-only exposure to 0, 100, 200, 500, 1000, 2000, 3000, and 4500 ppm toluene for 50 min while simultaneously tested for delayed matching-to-sample behavior, a test of cognitive functions. Response time increased and accuracy of matching decreased at 2000 ppm or more of toluene, indicating an attentional deficit but not specific memory effects. Behavioral indices exhibited monotonic concentration-related changes. Expired carbon dioxide (CO2), the most sensitive index, displayed an inverted U-shaped concentration-effect curve, which increased at 100 ppm (the TLV) and decreased at 4500 ppm toluene. Changes in expired CO2 provide new evidence of physiological changes at very low levels of toluene. These changes may indicate combined behavioral, respiratory, sensory, and metabolic effects. No behavioral measure exhibited either cumulative effects or tolerance to 4500 ppm during two 3-day exposures. However, both response time and expired CO2 exhibited an acute, within-session tolerance. The results indicate that brief inhalation exposure to toluene impairs cognitive and motor abilities at concentrations below those causing overt signs, such as ataxia and intention tremoring.
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PMID:Effects of toluene inhalation on behavior and expired carbon dioxide in macaque monkeys. 392 33

The presentation and treatment of a central hypoventilation syndrome in a boy with pyruvate dehydrogenase complex (PDHC) deficiency are reported. Dephosphorylated PDHC was assayed in disrupted fibroblasts after pretreatment with dichloroacetate, a pyruvate dehydrogenase kinase inhibitor. Maximal specific activity of activated patient PDHC was 10% to 30% of control values. Patient PDHC activity was not increased by alterations in concentrations of pyruvate or cofactors (thiamine pyrophosphate [TPP], coenzyme A [CoA], oxidized form of nicotinamide adenine dinucleotide [NAD+]). Clinically, normalization of plasma lactate by a high-lipid diet did not prevent slowly progressive neurologic decline. The patient manifested intermittent ataxia, episodic profound weakness, moderate psychomotor retardation, ophthalmoplegia, and retinal pigment epithelial changes. A true central hypoventilation syndrome was documented on the basis of rigorous radiologic, electrophysiologic, and pulmonary function criteria. Theophylline, progesterone, and ritalin neither altered ventilatory response to CO2 nor permitted weaning from the ventilator. In contrast, peripheral chemoreceptor stimulants (intravenous doxapram; oral almitrine) effected an acute doubling of minute ventilation with appropriate decreases in PaCO2. However, a positive response to long-term therapy with almitrine could not be unequivocally shown. It was concluded that measurement of disrupted fibroblast PDHC following dichloroacetate activation constitutes an accurate assay for PDHC deficiency. PDHC deficiency must be considered in the differential diagnosis of the central hypoventilation syndrome; this appears to be the first report of such an association. Finally, a therapeutic trial of a peripheral chemoreceptor agonist is warranted in the management of central hypoventilation syndrome.
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PMID:Central hypoventilation syndrome in pyruvate dehydrogenase complex deficiency. 643 1

Subacute necrotizing encephalomyelopathy (Leigh's syndrome) is a rare neurodegenerative disease in the adult. The precise metabolic defect is unknown, but abnormalities of a mitochondrial enzyme system related to cytochrome-c oxidase or pyruvate dehydrogenase are described. The clinical picture usually consists of an altered breathing pattern, oculomotor paralysis, other signs of cranial nerve dysfunction, ataxia, myoclonic jerks, nystagmus, generalized seizures, optic atrophy and demyelinating peripheral neuropathy. Hypopnea leads to CO2-retention with consecutive loss of consciousness demanding mechanical ventilation. Respiratory failure is the most frequent cause of death. Here we describe two patients with adult onset Leigh's syndrome and we discuss the longterm treatment strategies including vitamin B1 and CPAP mask.
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PMID:[Adult Leigh syndrome. A rare differential diagnosis of central respiratory insufficiency]. 771 56

Vertigo related to acidosis in Meniere's disease has been reported. This study was undertaken to ascertain whether acidosis has any effect on vertigo. Since patients with Meniere's disease usually show unilateral vestibular dysfunction, unilateral intratympanic injection of streptomycin sulfate (SM) was used to induce unilateral vestibular dysfunction in rabbits. Intratympanic SM injections induced vestibular destruction and elicited severe spontaneous nystagmus and ataxia. Then symptoms of acute vestibular upset gradually subsided and eventually disappeared completely. Three weeks after SM injections, in compensated rabbits, NH4Cl injection or CO2 inhalation was used to induce acidosis. Intravenous NH4Cl injection or CO2 inhalation induced nystagmus and ataxia again. In normal rabbits, no nystagmus was induced by NH4Cl injection or by CO2 inhalation. These results suggest that acidosis might be a cause of recurrence of vertigo in patients with unilateral vestibular dysfunction.
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PMID:Effect of experimental acidosis on nystagmus in rabbits. 820 92

Our results showed more rapid falls in pulse rate and blood pressure in rats euthanized in a chamber precharged with carbon dioxide (CO2), when compared with rats euthanized more slowly, but death still took over 5 min in the former group. There was no behavioural evidence of pain or distress in either group during euthanasia. Initial ataxia and dyspnoea was punctuated by a lag before death, thus separating euthanasia into three clearly defined phases. All visual signs of death preceded complete vascular collapse by about 1 min in both groups, so we recommend that gas flow be maintained for at least 1 min after apparent death.
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PMID:Behavioural and cardiovascular responses of rats to euthanasia using carbon dioxide gas. 935 Jul 5

We report on a 19-year-old Russian man with Friedreich ataxia with an expanded GAA repeat. The symptoms include ataxia of the trunk and lower extremities, dysdiadochokinesia of the upper extremities with left side dominance, square wave jerks, dysarthria, decreased muscle tone, areflexia, hypesthesia, decreased vibration sense and weakness in the lower extremities, extensor plantar response, skeletal abnormalies, and hypertrophic cardiomyopathy. Somatosensory Evoked Potentials elicited by median nerve stimulation suggested involvement of the central pathways, including the posterior column with lateral dominance. Sural nerve biopsy showed a marked decrease in large myelinated fibers (120/mm2) and a moderate decrease in small myelinated fibers (1430/mm2) with normal density of unmyelinated fibers. Carbon dioxide laser stimulation of the upper limbs demonstrated "C-fiber component" toward Adelta fibers and a normal component toward C fibers. Immunohistochemical staining of a skin biopsy from the lateral malleolus for protein gene product 9.5 demonstrated a normal density (18/mm) of intraepidermal nerve fibers. To our knowledge, this is the first report using CO2 laser stimulation, skin biopsy, and sural nerve biopsy that unmyelinated fibers are not involved in Friedreich ataxia.
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PMID:[Neurological findings, neurophysiological examinations, and sural nerve biopsy in a case of Friedreich ataxia]. 1706 2

Euthanasia is one of the most commonly performed procedures in laboratory animal settings. The method of euthanasia may affect experimental results in studies using animals and must be compatible with research objectives including subsequent tissue analyses. Our present study was performed to evaluate the effects of 7 euthanasia methods on sperm motility in mature rats. Rats were euthanized using CO2, 2 commercially available euthanasia solutions (Beuthanasia-D and Sleepaway), and 4 volatile anesthetics (enflurane, halothane, isoflurane, and sevoflurane). Rats euthanized by rapid decapitation alone served as negative controls, and a-chlorohydrin-treated rats euthanized by rapid decapitation were positive controls for sperm impairment. For 5 of these methods, we also measured time to ataxia, recumbency, respiratory arrest, and no auscultable heartbeat. Immediately after euthanasia of each rat, distal caudal epididymides were removed; 1 was processed for automated sperm motility analysis, and the other was frozen for subsequent concentration analysis. Time to all measured parameters was less for volatile anesthetics than for Beuthanasia-D. Times to last respiration and no heartbeat were less for halothane and isoflurane than for enflurane and sevoflurane. Percentage motile sperm did not differ significantly between methods. Percentage progressively motile sperm did not vary significantly between methods except for Beuthanasia-D, for which it was significantly less than the negative control value. Specific sperm motion parameters for each euthanasia method except CO2 and Sleepaway varied significantly from the negative control. Our results indicate that the method of euthanasia is an important consideration when rat sperm motility parameters must be evaluated.
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PMID:Effect of method of euthanasia on sperm motility of mature Sprague-Dawley rats. 1734 47

Classic galactosemia is caused by impaired galactose-1-phosphate uridyltransferase (GALT EC 2.7.712). If discovered and treated within the first days of life, the acute problems of hepatocellular damage, sepsis, and death are prevented. However, chronic problems such as ataxia, tremor, dyspraxic speech, and ovarian failure may occur. To determine whether screening newborns before discharge from the nursery for GALT deficiency is feasible and whether acute and chronic signs could be prevented by earlier intervention, we developed a simplified "breath test." We quantitated total body oxidation of C-D-galactose to CO2 in expired air by normal newborns between 2 h and 2 mo of age and compared their results to older children with GALT deficiency. We found no differences in total body galactose oxidation (TBGO) among normal newborns up to 48 h of age, but a 2-fold rise in TBGO developed during their first 2 wk of life. Older children with galactosemia had significantly less oxidative capacity than normal newborns. We conclude that newborn breath testing for total body galactose oxidation is feasible before discharge from nursery. It has potential utility for both preventing acute neonatal toxicity and determining the mechanisms producing long-term complications such as ovarian failure, dyspraxia, ataxia, and tremors.
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PMID:Screening newborns for galactosemia using total body galactose oxidation to CO2 in expired air. 1795 57

Joubert syndrome is a rare autosomal recessive disorder, which is characterized by absence or underdevelopment of the cerebellar vermis and severe developmental delay. The other common features include ataxia, an abnormal breathing pattern, abnormal eye movements and hypotonia. We report the anesthetic management in a 13-year-old girl with Joubert syndrome, scheduled for cauterization of nasal mucosa under general anesthesia. She had episodes of tachypnea and apnea. Oral midazolam 10 mg and famotidine 20 mg were administered 30 min before surgery. Anesthesia was induced and maintained with sevoflurane and nitrous oxide in oxygen. Vecuronium 2 mg was used to facilitate tracheal intubation. Mechanical ventilation was performed with a low ventilation setting of respiratory rate 5 beats x min(-1) and peak inspiratory pressure 9 cm H2O to maintain normal end-tidal CO2. Flurbiprofen axetil 30 mg was administered intravenously for analgesia, because opioids are not recommended. After reversal of muscle relaxation by atropin 0.5 mg and neostigmine 1.5 mg, her trachea was extubated. She did not develop postoperative apnea. In this patient with Joubert syndrome, midazolam, sevoflurane, nitrous oxide and flurbiprofen axetil were used without any complications.
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PMID:[General anesthesia for a girl with Joubert syndrome]. 2022 61


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