Purine Phosphoribosyltransferase in Gilles de la Tourette Syndrome
- 27 January 1977
- journal article
- case report
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 296 (4) , 210-212
- https://doi.org/10.1056/nejm197701272960409
Abstract
Gilles de la Tourette syndrome is a neurologic disorder in which there are both motor and behavioral abnormalities, approximately 75 per cent of the patients are male and the onset of the disease is usually between two and 14 years of age.1 , 2 Recently, a genetic origin has been suggested on the basis of an approximate 10 per cent family history of the disease,2 , 3 with numerous reports describing both parent and offspring with the syndrome4 , 5 and a high rate in Ashkenazic Jews and a low rate in the black population. The initial symptom is usually involuntary ticlike muscle movements. With progression . . .Keywords
This publication has 16 references indexed in Scilit:
- Therapy of intention myoclonus with L‐5‐hydroxytryptophan and a peripheral decarboxylase inhibitor, MK 486Neurology, 1975
- Prophylactic Effect of L-5-Hydroxytryptophan on Self-Mutilation in the Lesch-Nyhan SyndromeNeuropediatrics, 1975
- Age-induced changes in adenosine monophosphate:pyrophosphate phosphoribosyltransferase and inosine monophosphate:pyrophosphate phosphoribosyltransferase from normal and Lesch-Nyhan erythrocytesBiochemistry, 1974
- THE SYMPTOMATOLOGY AND DIAGNOSIS OF GILLES DE LA TOURETTE'S SYNDROMEJournal of the American Academy of Child Psychiatry, 1973
- Disparate Enzyme Activity in Erythrocytes and Leukocytes. A VARIANT OF HYPOXANTHINE PHOSPHORIBOSYL-TRANSFERASE DEFICIENCY WITH AN UNSTABLE ENZYMEJournal of Clinical Investigation, 1973
- Familial Incidence of Gilles de la Tourette's Disease, with Observations on Aetiology and TreatmentThe British Journal of Psychiatry, 1973
- Immunochemical studies of AMP:pyrophosphate phosphoribosyltransferase from normal and Lesch—Nyhan subjectsBiochimica et Biophysica Acta (BBA) - Enzymology, 1973
- Clinical features of the Lesch-Nyhan syndromeArchives of internal medicine (1960), 1972
- A Psychophysiological Study of Multiple TicsArchives of General Psychiatry, 1971
- Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine SynthesisScience, 1967