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

Six maintenance hemodialysis patients with dialysis dementia (severe mental deterioration, speech disturbances, apraxia, facial grimacing, and myoclonus) were studied. They were matched with respect to age, duration of dialysis, and underlying renal disease with six patients who had no dementia and who acted as controls for the electroencephalographic (EEC) studies. The dementia patients had marked slowing of the EEG rhythm to 5--7 Hz with high voltage biphasic or triphasic spikes, and were clearly separated by frequency distribution analysis from the controls. Radio-iodinated serum albumin (RISA) cisternography in dementia patients demonstrated ventricular reflux, prolonged stasis, late appearance of the parasagittal strip, and persistence of RISA for up to 72--96 hr, which suggest an alteration in cerebrospinal fluid (CSF) dynamics.
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PMID:Electroencephalographic and radionuclide studies in dialysis dementia. 65 Nov 29

A 31-year-old male is described who has macular cherry-red spots, increased deep tendon reflexes and and myoclonus without dementia. An older brother died at age 33 of a disease with similar symptomatology. Homogenates of cultured fibroblasts from the patient exhibited 2.6, 8.1 and 12.4% of normal mean sialidase (neuraminidase, N-acetyl-neuraminosyl glycohydrolase, EC 3.21.18) activity, respectively, against 2-(3'-methoxyphenyl)-N-acetyl-alpha-neuraminic acid, N-acetyl-neuramin-lactose and fetuin. Activities of 14 other lysosomal enzymes were within the range of normal control fibroblasts. The sialidase activities in fibroblasts from the patient's parents and children were 30 to 67% of normal. It is concluded that this is the first proven case of a new autosomal recessive disorder resulting in cherry-red spots, myoclonus and a sialidase deficiency.
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PMID:Sialidase (alpha-n-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementia. 65 77

The clinical features of 42 patients with the only recently recognized and generally fatal neurological syndrome of progressive dialysis encephalopathy are reviewed and the electroencephalographic and neuropathological findings are summarized. Despite apparently successful hemodialysis, these patients develop a wide spectrum of neurological abnormalities. Of these, sudden onset of hesitant, nonfluent speech is the most characteristic and usually the earliest sign. Both dysphasic and dysarthritic elements are found, though the former predominate. Myoclonus, dementia, seizures, and gait difficulty are also seen in the majority of these patients. EEGs are more abnormal than would be expected for the clinical severity, with some type of high-voltage spike-wave pattern intermixed with abundant slow activity. The combination of clinical and EEG features in the appropriate setting is virtually diagnostic. Transient episodes with variable periods of complete or partial remission have been recognized. Neuropathological changes are surprisingly mild and nonspecific. The cause is uncertain; current speculation focuses on aluminum as the offending neurotoxin. Treatment remains unsatisfactory.
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PMID:Progressive dialysis encephalopathy. 71 32

In the four years between 1972 and 1976 twenty out of 160 maintenance dialysis patients developed dialysis dementia. Their illness was characterized by an insidious onset of mental deterioration, speech disturbance, apraxia, and myoclonus. The disease progressed inexorably to a fatal outcome, the onset of seizures being an ominous sign, and the average duration of the illness being seven months. Routine biochemical studies were unremarkable, and osteodystrophy was not a prominent feature. Serial electroencephalograms (EEG) showed progressive slowing of the rhythm, usually antedating the neurologic symptoms. Brain scan and flow studies were normal. Radio-iodinated serum albumin (RISA) scans in seven patients showed changes suggesting altered cerebrospinal fluid (CSF) dynamics. Treatment was generally ineffective, but ventriculo-peritoneal shunting produced transient neurologic improvement in one patient. Epidemiologic investigations showed high aluminum levels in city water during the period of the outbreak.
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PMID:Dialysis dementia -- the Chicago experience. 75 Jun 11

Myoclonus in association with dementia of later adult life has been considered almost pathognomonic of Creutzfeldt-Jakob disease. However, myoclonus may also be seen with Alzheimer disease, and when the myoclonus occurs as an early manifestation of Alzheimer disease, distinction from Creutzfeldt-Jakob disease may prove difficult.
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PMID:Myoclonus in Alzheimer disease. A confusing sign. 76 61

Two unrelated patients with the cherry red spot--myoclonus syndrome, a rare chronic neuronal storage disorder that begins in childhood with progressive myoclonus, cherry red spots at the macula, and easily controlled seizures, but no dementia, have been investigated electrophysiologically in order to characterize the myoclonic and electroencephalographic features of this syndrome. Phenomenologically, the disease most closely resembles the Ramsay Hunt syndrome, although certain unique features are noted and the patients are not photosensitive. Pathologically and clinically, the disease is related to mucolipidosis type I and atypical cases of GM1 gangliosidosis, and the EEGs obtained from our patients are identical to those seen in mucolipidosis type I. Because of the unusual clinical picture presented in this disease, there should be no difficulty in differentiating it from other more malignant storage disorders and progressive myoclonus epilepsies of childhood. Electrophysiological findings suggest that the myoclonic jerks do not originate cortically, but the specific subcortical generators have not been identified.
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PMID:Electrophysiological studies in two patients with cherry red spot--myoclonus syndrome. 85 94

An account is given of a form of hereditary, cerebellar ataxia and photomyoclonus. Eight cases from 5 generations were affected. The disease seemed to be transmitted as an autosomal dominant trait. The age at onset usually varied between 35 to 40 years. The symptoms and signs consisted of a cerebellar ataxia, dysarthria and intention tremor. There was no nystagmus. All patients exhibited photomyoclonus and were extremely sensitive to photic stimuli. Other signs were dementia, kyphosis, pes cavus and lipoma localized in the nape of the neck, shoulders and back. Two patients had a partial syndrome with photonyoclonus and skeletal deformities. None of the patients suffered from epilepsy, In one case, histopathological examination revealed atrophy within the cerebellar cortex, dentate nucleus and the posterior columns of the spinal cord. It is concluded that this syndrome belongs to a groups of hereditary ataxias and myoclonus, and differs from myoclonic cerebellar dyssynergia (Ramsay Hunt) and alos from a variety of familial myoclonus and ataxia (Gilbert et al. 1963);
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PMID:Hereditary ataxia, photomyoclonus, skeletal deformities and lipoma. 113 Jan 71

In contrast to juvenile rigid form of Huntington's disease (HD) in which myoclonus is often seen, only 5 patients with myoclonus complicating adult HD have been reported. We herein described an adult HD patient who suffered from severe action myoclonus leading to physical disability. To our knowledge, this is the first case report in Japan. The patient, a 32-year-old female with a family history of chorea, developed choreiform movements and mental changes since the age of 24. Subsequently her motor disability has been aggravated by distinctively different involuntary movements characterized by sudden, violent, continuous muscular contractions of four extremities on any attempts at movement. Examination revealed moderate dementia and chorea complicated by frequent myoclonic jerks involving upper and lower extremities in posture or during movement. A head CT scan and MRI revealed caudate atrophy. The myoclonus, as recorded by surface electromyography over the right arm consisted of 40-60 msec-synchronous semirhythmic bursts. The cortical component of SEP was enlarged and C reflex was also observed. Clonazepam (4 mg a day) was instituted with a pronounced reduction in myoclonus and a return to her previous level of daily life activity. Although myoclonic jerks are often recognized in juvenile patients with rigid form of HD, they have been considered to exert a minor influence on physical disability. By contrast, our present observation and review of literature suggest that myoclonus may lead to severe motor impairment in adult HD.
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PMID:[Action myoclonus in adult Huntington's disease]. 129 Nov 67

Animal data indicate that serotonin (5-HT) is a major neurotransmitter involved in the control of numerous central nervous system functions including mood, aggression, pain, anxiety, sleep, memory, eating behavior, addictive behavior, temperature control, endocrine regulation, and motor behavior. Moreover, there is evidence that abnormalities of 5-HT functions are related to the pathophysiology of diverse neurological conditions including Parkinson's disease, tardive dyskinesia, akathisia, dystonia, Huntington's disease, familial tremor, restless legs syndrome, myoclonus, Gilles de la Tourette's syndrome, multiple sclerosis, sleep disorders, and dementia. The psychiatric disorders of schizophrenia, mania, depression, aggressive and self-injurious behavior, obsessive compulsive disorder, seasonal affective disorder, substance abuse, hypersexuality, anxiety disorders, bulimia, childhood hyperactivity, and behavioral disorders in geriatric patients have been linked to impaired central 5-HT functions. Tryptophan, the natural amino acid precursor in 5-HT biosynthesis, increases 5-HT synthesis in the brain and, therefore, may stimulate 5-HT release and function. Since it is a natural constituent of the diet, tryptophan should have low toxicity and produce few side effects. Based on these advantages, dietary tryptophan supplementation has been used in the management of neuropsychiatric disorders with variable success. This review summarizes current clinical use of tryptophan supplementation in neuropsychiatric disorders.
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PMID:L-tryptophan in neuropsychiatric disorders: a review. 130 30

Chronic treatment of humans with several drugs is associated with lesions resembling lipidosis in different tissues. Recently, a Creutzfeldt-Jacob-like syndrome has been observed during tricyclic antidepressant therapy, but no evidence of interaction of these drugs with lysosomal function has been reported during such treatment. We report a case of dementia, myoclonus, peripheral neuropathy, and lipid storage in the skin due to antidepressant drug therapy, in which the discontinuation of drugs resulted in an improvement of clinical and electrophysiologic signs together with reduction of morphological evidence of lipid lysosomal storage.
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PMID:Dementia, myoclonus, peripheral neuropathy, and lipid-like material in skin biopsy during psychotropic drug treatment. 133 26


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