Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Clinical and Neuropathological data on sixteen cases of progressive myoclonic encephalopathy are reported. This neurological syndrome appears after an average duration of thirty two months of haemodialysis and leads to death in four and a half months, and is characterized by myoclonus, speech disorder, epileptic seizures, and mental-status changes. At first, clinical signs and symptoms are related to haemodialysis, later they become permanent. An early diagnosis is based on EEG which is the only useful laboratory test, demonstrating bisynchronous slow-wave bursts. The caracteristic histopathologic findings are neuronal depopulation, lipofuscin accumulation, and appearance of Neurofibrillary degeneration, especially in Motor cortex, red nucleus and dentato-olivary systems. It seems to be justified to attribute P.M.D.E. to aluminium chronic poisonning; the source of the aluminium intoxication is not aluminium containing phosphate-binding gels but intravenously administreted tape-water. The intracellular binding of aluminium is shown from a histochemical study employing fluorescent stain Morin.
 ...
PMID:[Progressive myoclonic encephalopathy in dialysis patients. Clinical, electroencephalographic and neuropathological study. Pathogenetic discussion]. 10 55

The dialysis encephalopathy syndrome (DES) consists of altered mental status, communication difficulty, seizures and myoclonus. It has been attributed to elevated serum aluminium (A1) levels. Two undialysed patients with chronic renal failure who presented with the characteristic syndrome are reported. The first, a 48 year old female, had used A1 containing phosphate binders for two years. Her serum A1 level was 25.34 mumol/L. Despite treatment with desferoximine and dialysis, she died. Necropsy revealed elevated A1 levels in the cerebral cortex (19 mcg/gm) and spongioform change in the outer three cortical layers. The second patient, a 46 year old woman, had a serum A1 of 8.70 mumol/L. She had never taken A1 containing phosphate binders but had taken several grams/day of citrate for at least six months. Treatment with haemodialysis and discontinuation of the citrate produced a resolution of symptoms and return of the A1 level to normal. During two years of haemodialysis there has been no recurrence.
 ...
PMID:Aluminium intoxication in undialysed adults with chronic renal failure. 152 41

"Denervation supersensitivity" of serotonin (5-HT) receptors has been proposed to explain the behavioral supersensitivity to 5-hydroxytryptophan (5-HTP) which develops after lesions of indoleamine neurons with 5,7-dihydroxytryptamine (5,7-DHT). To examine the possible role of receptor recognition sites and second messenger activity in supersensitivity, we measured regional 5-HT2 receptor ligand binding and 5-HT-stimulated phosphoinositide turnover in adult rats with 5,7-DHT lesions made by intracisternal injection and their saline-treated controls. In [3H]ketanserin binding studies of fresh brain tissue two weeks after 5,7-DHT injection, there were no significant changes in frontal cortex, brainstem, or spinal cord in Bmax, Kd, or nH of 5-HT2 receptors, 5,7-DHT lesions did not affect basal levels of [3H]inositol phosphate (IP) accumulation but significantly increased 5-HT-stimulated [3H]IP accumulation in the brainstem (+27%) and cortex (+23%). Because brainstem rather than cortex is involved in 5-HTP-evoked myoclonus, increased 5-HT-stimulated phosphoinositide hydrolysis in brainstem following 5,7-DHT lesions in the rat may be relevant to serotonergic behavioral supersensitivity.
 ...
PMID:Regional central serotonin-2 receptor binding and phosphoinositide turnover in rats with 5,7-dihydroxytryptamine lesions. 215 84

Possible involvement of prostaglandins (PG) in the antimyoclonic action of clonazepam was examined in the p,p'-DDT-animal model of myoclonus. PG synthesis inhibitors and the PG antagonist polyphloretin phosphate (PPP) counteracted the antimyoclonic action of clonazepam in mice. PGE2 reduced DDT-induced myoclonus; this effect was blocked by PPP. Another antimyoclonic drug combination, L-5-hydroxytryptophan plus chlorimipramine, was not blocked by PPP or indomethacin. The antimyoclonic action of clonazepam may be mediated by enhancement of PG synthesis.
 ...
PMID:Role of prostaglandins in the antimyoclonic action of clonazepam. 723 84

The examination of five pediatric patients with encephalopathy secondary to chronic renal failure has indicated a stereotyped sequence of neurologic signs and symptoms including ataxia, loss of motor abilities, myoclonus, seizures, dementia, and bulbar dysfunction. Both the patients with CNS dysfunction and a control group selected for a similar degree of renal failure had increased levels of serum phosphate, alkaline phosphatase, and parathyroid hormone. Serial EEGs in the affected group revealed progressive slowing and an increase in paroxysmal features. No specific neuropathologic findings were noted in one patient.
 ...
PMID:Encephalopathy in infants and children with chronic renal disease. 729 12

A 16-year-old girl presented with early-onset cerebellar ataxia, myoclonus, elevated lactic acidosis and hypogonadotropic hypogonadism. Muscle biopsy specimens revealed fibres with a "ragged" appearance with increased mitochondria and lipid droplets. Biochemical investigation revealed a deficiency of complex bc1 (complex III) of the mitochondrial respiratory chain. Genetic analysis did not show either deletions or known mutations of mitochondrial DNA (mtDNA). Phosphorus magnetic resonance spectroscopy (31P-MRS) showed defective energy metabolism in brain and gastrocnemius muscle. A decreased phosphocreatine (PCr) content was found in the occipital lobes accompanied by normal inorganic phosphate (Pi) and cytosolic pH. These findings represented evidence of a high cytosolic adenosine diphosphate concentration and a relatively high rate of metabolism accompanied by a low phosphorylation potential. Muscle 31P-MRS showed a high Pi content at rest, abnormal exercise transfer pattern and a low rate of PCr post-exercise recovery. These findings suggested a deficit of mitochondrial function. Therapy with vitamins K3 and C normalized brain 31P-MRS indices, whereas it did not affect muscle bioenergetic metabolism. In this patient, the endocrinological disorder is putatively due to a mitochondrial cytopathy. Although an unknown mtDNA mutation cannot be ruled out, the genetic defect may lie in the nuclear genome.
 ...
PMID:Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamins K3 and C. 779 18

The work presents two cases of Paget disease with a complex neurological description. The first case, a woman of 59 years, presents a spastic paraparesis with multiple syndrome of cranial nerves. The second case, a woman of 60 years, presents a spastic tetraparesis with myoclonus. The cranial radiography stood out to both patients the thickness of the bones of the skull in the context of the existence of some grown titres of the alkaline phosphate. The examination CT to the second patient indicates an important cerebral atrophy. Auditory evoked potentials (AEPs) show to the first patient the increasing in time of the latency of the first wave and to the second patient the inequality of latency from the right to left a wave I and the growing latency of the interval I-III to the left. Visual evoked potentials (VEPs) to the second patient indicate the delay of all the component parts. If the radiological examination asserts the diagnosis, the electrophysiological probings diagnose the complications and the evolution of the disease.
 ...
PMID:[The clinical, imaging and electrophysiological correlations in Paget's disease]. 1075 73

A 90-year-old woman with hypertension developed metabolic alkalosis and myoclonus. Her medications included diltiazem hydrochloride, benidipine hydrochloride, kallidinogenase, procaterol hydrochloride, sennoside, dihydrocodeine phosphate, and KM powder antacid that contained 354 mg of licorice and 900 mg of sodium bicarbonate per 3.9 g of powder. Endocrinological studies showed slightly reduced plasma renin activity and normal plasma aldosterone concentration. A provisional diagnosis of licorice-induced metabolic alkalosis was established and the patient was successfully treated after correction of serum pH and cessation of the medications. Licorice-induced metabolic alkalosis must be considered in the differential diagnosis of myoclonus.
 ...
PMID:Myoclonus and metabolic alkalosis from licorice in antacid. 1496 72

An eight-week-old infant, the fourth child of consanguineous parents presented with intractable neonatal seizures. The mother had two previous miscarriages. The infant initially presented on day one with multifocal myoclonus, complex partial and generalised tonic-clonic seizures. On examination, there were dysmorphic hands and feet, with absent nails and terminal phalanges of the fingers and toes, hepatomegaly, marked axial and peripheral hypotonia and severe global developmental delay. Ophthalmological assessment showed 'salt and pepper' pigmentary retinopathy. The urinary organic acid profile revealed a marked increase in tricarboxylic acid metabolites. Urinary phosphate reabsorption was reduced at 84%. Type I fibre atrophy was seen on muscle histology, and a cytochrome c oxidase deficiency was found only on enzymology of liver tissue. Limb malformations associated with respiratory chain defects have rarely been reported. To our knowledge, this child has the most severe limb anomaly associated with a tissue-specific complex IV respiratory chain defect.
 ...
PMID:Neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency. 1502 75

We describe the electroencephalographic and clinical seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy (PLP-DE) in two patients [diagnosis confirmed by low cerebrospinal fluid (CSF) PLP, complete resolution of previously intractable seizures with PLP supplementation, negative pyridoxine-dependent epilepsy CSF biomarkers, and/or positive disease causing pyridox(am)ine 5'-phosphate oxidase gene mutation] along with a comprehensive review of the literature. One patient presented with neonatal tonic status epilepticus with subsequent generalized tonic-clonic seizures, and the second, with refractory complex partial seizures starting at 2 years of age. The pretreatment EEG revealed, interictally, burst suppression, multifocal independent sharp waves, and electrical status epilepticus in sleep. Ictally and interictally, it revealed runs of unilateral spike/slow waves. Previously reported features include burst suppression, myoclonus, tonic seizures, clonic seizures, and spasms. In the appropriate clinical scenario, the aforementioned features should raise the possibility of PLP-DE and appropriate treatment should be initiated. The first late-onset case (at 2 years) of PLP-DE is reported.
 ...
PMID:Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy. 2129 58


1