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At least 883 records · Page 49Linked to original sources
PubMed1972

Inosinic acid dehydrogenase activity in the Lesch-Nyhan syndrome.

Inosinic acid dehydrogenase was evaluated in normal subjects and in patients with the Lesch-Nyhan syndrome. A significant difference in activity was found between erythrocytes derived from normal controls (1.21+/-0.47 pmoles/hr per mg protein) and from 15 patients with the Lesch-Nyhan syndrome (6.72+/-6.23 pmoles/hr per mg protein). However, no difference in activity was demonstrable in muscle or leukocytes derived from normal and Lesch-Nyhan patients. The increased activity of inosinic acid dehydrogenase in erythrocytes from patients with the Lesch-Nyhan syndrome is due to stabilization of the enzyme in vivo as well as the absence of an inhibitor which is present in erythrocytes from normal subjects.

Analysis of Variance↗
PubMed1972

Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome.

The Lesch-Nyhan syndrome is characterized clinically by choreoathetosis, spasticity, selfmutilation, and mental and growth retardation. Biochemically, there is a striking reduction of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity in affected individuals. We have examined erythrocytes from 14 patients with the Lesch-Nyhan syndrome for the presence of hypoxanthine-guanine phosphoribosyltransferase activity and enzyme protein. In contrast to the usual finding of no detectable hypoxanthine-guanine phosphoribosyltransferase activity, we have found low levels (0.002-0.79 nmoles/mg protein per hr) of hypoxanthine-guanine phosphoribosyltransferase activity in erythrocyte lysates from five of these patients. In three of the five patients, hypoxanthine-guanine phosphoribosyltransferase activity appeared to be substantially more labile in vivo than normal using erythrocytes which had been separated according to their density (age). Immunochemical studies using a monospecific antiserum prepared from a homogeneous preparation of normal human erythrocyte hypoxanthine-guanine phosphoribosyltransferase revealed immunoreactive protein (CRM) in hemolysate from all 14 patients with the Lesch-Nyhan syndrome. The immunoreactive protein from each patient gave a reaction of complete identity with normal erythrocyte hypoxanthine-guanine phosphoribosyltransferase and was present in quantities equal to those observed in normal erythrocytes. In addition, a constant amount of CRM was found in erythrocytes of increasing density (age) from patients with the Lesch-Nyhan syndrome despite the decreasing hypoxanthine-guanine phosphoribosyltransferase activity. These studies confirm previous data which indicate that the mutations leading to the Lesch-Nyhan syndrome are usually, if not always on the structural gene coding for hypoxanthine-guanine phosphoribosyltransferase. In addition, although the mutant proteins appear to be present in normal amounts, they are often very labile in vivo with respect to enzymatic activity. These observations suggest that therapy directed at stabilization or activation of enzyme activity in vivo may be of potential benefit.

Athetosis↗
PubMed1976

Reversal of tricyclic-overdosage-induced central anticholinergic syndrome by physostigmine.

Although there is evidence that the delirium, stupor, coma, and seizure-like activity seen in overdosage with tricyclic antidepressants and antiparkinson drugs are due to the central anticholinergic activity of these agents, patients with overdosage of these drugs are still frequently misdiagnosed. The authors present a case of reversal of anticholinergic-drug-induced prolonged coma, myoclonus, and choreoathetosis by physostigmine. This report supports the anticholinergic basis of the clinical manifestations of such overdosages, provides information on the role of acetylcholine and dopamine in psychiatric and movement disorders, and illustrates dramatically the need for accurate diagnosis and treatment.

Amitriptyline↗
PubMed1981

"On-off" syndrome treated with lithium carbonate: a case report.

The authors describe a 42-year-old man who developed "on-off" episodes and for whom lithium carbonate proved an effective treatment. They speculate that the predominant effect of lithium in the "on-off" syndrome is to prevent L-dopa desensitization of the dopamine receptor.

Adult↗
PubMed1990

Clonazepam treatment of tardive dyskinesia: a practical GABAmimetic strategy.

Because of the efficacy of specific gamma-aminobutyric acid (GABA) agonists in tardive dyskinesia, the authors tested the benzodiazepine clonazepam in a 12-week, double-blind, placebo-controlled, randomized crossover trial in 19 chronically ill patients with tardive dyskinesia who were being treated with neuroleptics. They found a 35% decrease in dyskinesia ratings with clonazepam treatment. The six patients with predominantly dystonic symptoms showed greater benefit than the 13 patients with predominantly choreoathetoid dyskinesias. Tolerance developed to the antidyskinetic effect of clonazepam in the five patients whose long-term use of the drug was followed, but a 2-week clonazepam-free period recaptured its antidyskinetic effect.

Adult↗
PubMed1989

Choreoathetosis: a sign of lithium toxicity.

Two patients who developed choreoathetosis in the course of lithium treatment are described, and other cases of choreoathetosis in lithium-treated patients are reviewed. Choreoathetosis is suggested to be a sign of lithium toxicity, almost always accompanied by other signs of neurotoxicity, such as delirium and cerebellar dysfunction. Of the reported cases, 44% developed permanent movement disorders, and 63% of the patients with permanent deficits were taking both lithium and neuroleptic. When choreoathetosis was not permanent, the average duration was seven days after discontinuation of lithium (range, 1 to 90 days).

Aged↗
PubMed1991

Differential diagnosis of choreiform tardive dyskinesia.

Orofacial dyskinesias and choreiform movements of limbs occur with moderate frequency among psychiatric patients. Abnormal involuntary movements are symptoms of a wide variety of neurological and medical disorders. For both therapeutic and medicolegal reasons, psychiatric patients should be thoroughly evaluated before being given the diagnosis of tardive dyskinesia. This review presents the differential diagnosis of disorders associated with orofacial and appendicular choreiform involuntary movements. In addition, this paper provides a guide to the clinical and laboratory evaluation of patients with these symptoms.

Athetosis↗
PubMed1984

Movement disorders in the psychiatric patient.

Abnormal movements or postures often present a diagnostic and therapeutic challenge to the psychiatrist or neurologist. The authors review pertinent anatomy and physiology of disorders of the extrapyramidal system, suggest aspects of the clinical history and examination particularly important for diagnosis, and describe a range of abnormal movements. They review several syndromes in which abnormalities of behavior and movement may occur together, including Huntington's chorea, Wilson's disease, Parkinson's disease, and tardive dyskinesia.

Adolescent↗