Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

beta-N-Oxalylamino-L-alanine (BOAA) and beta-N-methylamino-L-alanine (BMAA) are chemically related excitant amino acids isolated from the seed of Lathyrus sativus (BOAA) and Cycas circinalis (BMAA), consumption of which has been linked to lathyrism (an upper motor neuron disorder) and Guam amyotrophic lateral sclerosis (ALS), respectively. Both diseases are associated with degeneration of motor neurons. Experimentally, single doses of BOAA or BMAA induce seizures in neonatal mice and postsynaptic neuronal oedema and degeneration in explants of mouse spinal cord and frontal cortex. Preliminary studies show that these behavioural and pathological effects are differentially blocked by glutamate-receptor antagonists. In macaques, several weeks of daily oral doses of BOAA produce clinical and electrophysiological signs of corticospinal dysfunction identical to those seen in comparably well-nourished animals receiving a fortified diet based on seed of Lathyrus sativus. By contrast, comparable oral dosing with BMAA precipitates tremor and weakness, bradykinesia and behavioural changes, with conduction deficits in the principal motor pathway. BOAA and BMAA (or a metabolite thereof) are the first members of the excitotoxin family to have been shown to possess chronic motor-system toxic potential. These observations provide a rational basis for searching for comparable endogenous neurotoxins in sporadic and inherited forms of human motor neuron disease.
 ...
PMID:Discovery and partial characterization of primate motor-system toxins. 310 39

Progressive supranuclear palsy (PSP) was first recognized as a distinct morbid entity by Richardson, Steele and Olszewski a quarter century ago. Subsequent experience has confirmed and extended their original observations. PSP has become familiar as a chronic progressive disorder with extrapyramidal rigidity, bradykinesia, gait impairment, bulbar palsy, dementia and a characteristic supranuclear ophthalmoplegia. It is an important cause of parkinsonism. Its etiology remains obscure. Familial concentrations have not been observed. Some cases exhibit no oculomotor dysfunction. Dementia is usually mild. Recent neuropsychological studies have defined features consistent with frontal lobe cortical dysfunction. Seizures and paroxysmal EEG activity may occur. CT and MRI scans show midbrain atrophy early and later atrophy of the pontine and midbrain tegmentum and the frontal and temporal lobes. PET scans have shown frontal hypometabolism and loss of striatal D-2 dopamine receptors. Postmortem studies have documented involvement of both dopaminergic and cholinergic systems. Treatment remains palliative and unsatisfactory.
 ...
PMID:Progressive supranuclear palsy. 331 57

Muscimol is a potent agonist at GABA-inhibitory synapses in mammalian brain. Given systemically at 7 mumol per kilogram, it blocks topical penicillin seizures and delays the onset of generalized metrazol convulsions in rats. It has no effect against generalized seizures caused by picrotoxin or strychnine. Higher doses of muscimol cause bradykinesia, ataxia, catatonic posturing, and slowing of the electroencephalogram. When applied topically to cortex, muscimol blocks focal penicillin, bicuculline, and picrotoxin discharges in a dose-response relationship. It has no effect against topical strychnine. Muscimol offers a potential new approach to the treatment of epilepsy.
 ...
PMID:Anticonvulsant effects of muscimol. 718 34

We reported two siblings with metachromatic leukodystrophy of adult and juvenile onset. Patient 1, a 24-year-old female had been unremarkable until 23 years, when she began to develop loss of spontaneity, bradykinesia and gait disturbance. Nine months later, she became unable to walk and mentally deteriorated. Neurological examination disclosed dementia, frontal signs and hyperreflexia. Patient 2, a 22-year-old male, brother of patient 1, whose fetal development and birth were uneventful, developed muscle weakness at 12 years old, had difficulty in walking and writing at 13, mental deterioration at 16 and became bedridden and presented with tonic-clonic seizures at 19. Neurological examination at 24 revealed dementia, frontal signs, hyperreflexia and ataxia. In both patients computed tomography scans displayed low density in the cerebral white matter, and the nerve conduction velocities were decreased. Arylsulfatase A activities in urine (33% of normal) and leukocytes (8% of normal) were markedly reduced. Molecular genetic analysis identified the mutation 426Pro --> Leu (allele 426) as has been reported in adult type metachromatic leukodystrophy in Germany. As far as we know, only one sibling with adult type or juvenile type metachromatic leukodystrophy has been reported in Japan. This is the first report of siblings with 426Pro --> Leu mutation in Japan.
 ...
PMID:[Two siblings with metachromatic leukodystrophy of adult and juvenile onset]. 833 94

Cyclosporine has been associated with various neurological side-effects including postural tremor, seizures, headaches, encephalopathy, cortical blindness, and visual hallucinations. We describe here two patients who developed parkinsonism, with rest tremor and bradykinesia, after receiving cyclosporin A following allogeneic bone marrow transplantation. The patients did not have pre-existing neurological disorders, and had not received significant amounts of dopamine-blocking drugs. One patient improved markedly with Sinemet (carbidopa-levodopa), while the other (who did not tolerate Sinemet) improved with decrease in cyclosporine dosage. The relation of the parkinsonian symptoms to cyclosporine therapy and lack of other evident causes for the symptoms, suggests that parkinsonism may be an occasional consequence of cyclosporine.
 ...
PMID:Parkinsonism during cyclosporine treatment. 887 34

The authors examined the British medical literature published in the 45-year-period following Parkinson's treatise on the shaking palsy to determine the number and type of references to the shaking palsy or paralysis agitans during this particular period. Several sources suggest that Parkinson's 1817 treatise on the shaking palsy received little immediate attention in his native country, England, and that not until 1861, in France, did Charcot began to elucidate the clinical features of this entity, separating it from other neurologic disorders (for example, multiple sclerosis). A review of the British medical literature from the 45-year-period 1817-1861 revealed a number of references to paralysis agitans, including those by Cooke (1820), Good (1824 and 1829), Elliotson (1827, 1829, 1830, 1831, and 1833), Gowry (1831), anonymous (1832), Todd (1833), Watson (1836), Gibson (1839), Hall (1838 and 1841), Thompson (1842), Graves (1843), Birkett (1853), Paget (1855), and Reynolds (1855). Many of these did not report new or personally observed cases, did not separate Parkinson's disease from other disease entities characterized by both "shaking" and "palsy" (for example, tonic-clonic seizures), or misattributed motor signs to dysfunction of the pyramidal system rather than an extrapyramidal system (that is, attributing bradykinesia or rigidity to weakness). Although there were several references to "shaking palsy" in the early- to mid-19th-century British medical literature, there were few original case reports of Parkinson's disease. This may have contributed to the fact that during this period little was added to the original observations made by Parkinson in 1817. In particular, the separation of bradykinesia and weakness did not become apparent until later work by the French.
 ...
PMID:The shaking palsy, the first forty-five years: a journey through the British literature. 939 40

Huntington's disease (HD) is caused by mutation of the IT 15gene (chromosome 4p16.3), with elongation of (CAG) n repeats. Most juvenile Huntington disease patients acquire the genetic defect through paternal transmission due to amplification of the repeat number during spermatogenesis, and thus causing early age of disease onset and increased disease severity. We here report one case that instead of choreoathetosis presents symptoms of developmental regression, such as seizure and rigid/bradykinesia. EEG showed occipital dominant 4-5 Hz high-amplitude spike-wave activities. MRI showed advanced atrophy and abnormal increase in signal intensity on T2-weighted and proton-density-weighted images of the caudate nuclei and putamina early in the course. The clinical diagnosis is confirmed by PCR study of HD (CAG) n repeats. This is the first case of juvenile Hunington's disease reported in Taiwan.
 ...
PMID:Juvenile Huntington's disease: report of one case. 982 84

Delirium is common among cancer patients, especially those with advanced disease. Typical treatment involves addressing the underlying cause if possible; eliminating nonessential and/or other drugs that can worsen confusion, manipulating the environment; and administering antipsychotic drugs to control symptoms and agitated behavior, and attempt to clear the patient's sensorium. The newer atypical antipsychotics may have potential in the treatment of delirium and also have the added benefit of causing less akithisia and other extrapyramidal side effects. This is illustrated by the case of a 59-year-old woman with leukemia and pain of unclear etiology who developed a delirium and a moderate to severe extrapyramidal syndrome (EPS) in the setting of escalation of her pain medications and concomitant escalation of prochlorperazine. The patient presented with confusion and moderate to severe cogwheeling rigidity, masked facies, bradykinesia, and tremor. Additionally, the patient had a relatively recent history of subdural hematoma and one seizure. Conservative management including eliminating multiple nonessential medications (including the prochlorperazine); changing her opioid analgesic; providing a 24-hour companion: and administering low doses of haloperidol (0.5 mg-2.0 mg) were not effective in treating the patient's delirium. The patient's EPS was dramatically worse following haloperidol doses. After approximately I week without improvement, the patient was started on olanzapine 5 mg daily with initial improvement but with residual confusion in the evenings and overnight. The dose was titrated up to 10 mg nightly with 2.5 mg as needed during the day. After 3 days on this regimen, the patient's mental status exam was normal and she was discharged home. We discuss the potential utility of this atypical antipsychotic in the palliative care setting.
 ...
PMID:Complicated delirium in a cancer patient successfully treated with olanzapine. 1009 65

Development of the central nervous system requires proliferation of neuronal and glial cell precursors followed by their subsequent differentiation in a highly coordinated manner. The timing of neuronal cell cycle exit and differentiation is likely to be regulated in part by inhibitors of cyclin-dependent kinases. Overlapping and sustained patterns of expression of two cyclin-dependent kinases, p19(Ink4d) and p27(Kip1), in postmitotic brain cells suggested that these proteins may be important in actively repressing neuronal proliferation. Animals derived from crosses of Ink4d- null with Kip1-null mice exhibited bradykinesia, proprioceptive abnormalities, and seizures, and died at about 18 days after birth. Metabolic labeling of live animals with bromodeoxyuridine at postnatal days 14 and 18, combined with immunolabeling of neuronal markers, showed that subpopulations of central nervous system neurons were proliferating in all parts of the brain, including normally dormant cells of the hippocampus, cortex, hypothalamus, pons, and brainstem. These cells also expressed phosphorylated histone H3, a marker for late G(2) and M-phase progression, indicating that neurons were dividing after they had migrated to their final positions in the brain. Increased proliferation was balanced by cell death, resulting in no gross changes in the cytoarchitecture of the brains of these mice. Therefore, p19(Ink4d) and p27(Kip1) cooperate to maintain differentiated neurons in a quiescent state that is potentially reversible.
 ...
PMID:Postnatal neuronal proliferation in mice lacking Ink4d and Kip1 inhibitors of cyclin-dependent kinases. 1055 43

Parkinsonism complicating systemic lupus erythematosus (SLE) is extremely rare. We report two girls with SLE who developed extrapyramidal parkinsonian features after an initial stormy course. One patient presented with generalized tonic clonic seizure and was then noted to have akinetic mutism and masked face. MRI brain revealed abnormal signals in bilateral basal ganglia and single photon emission computed tomography (SPECT) showed hypoperfusion in the same area. EEG background was slow and disorganized. Symptoms persisted despite high dose intravenous methylprednisolone and cyclophosphamide. Intravenous immunoglobulin (IVIG) was prescribed empirically and was followed by complete recovery. Both EEG and MRI brain were normal on follow-up. The second patient was found unconscious and then developed bradykinesia, mutism and shuffling gait. MRI and SPECT both detected abnormalities in basal ganglia. EEG was slow. Intravenous immunoglobulin was given after methylprednisolone and cyclophosphamide. This was followed by clinical improvement. The pathogenesis of basal ganglia injury in SLE, along with the management of cerebral lupus and the mechanisms of action of IVIG, are discussed.
 ...
PMID:Parkinsonism as unusual neurological complication in childhood systemic lupus erythematosus. 1098 56


1 2 3 4 Next >>