Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P00492 (hypoxanthine-guanine phosphoribosyltransferase)
 2,385 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A possible association between the Gilles de la Tourette and Lesch-Nyhan syndromes has recently been postulated. Fourteen patients with Tourette syndrome demonstrated no similarity to Lesch-Nyhan based upon patterns of inheritance, behavioral changes, or alterations of purine metabolism. Despite a strong male predominance, a sex-linked pattern of inheritance could not be confirmed. Self-mutilating behavior was found in 4 male patients but was readily differentiated from that characteristic of the Lesch-Nyhan syndrome. Quantitation of hypoxanthine-guanine phosphoribosyltransferase and isoelectric focusing of its isoenzymes produced results that were indistinguishable from those in controls. We speculate that, pathophysiologically, Tourette syndrome represents an imbalance between the central neurotransmitters dopamine and serotonin rather than an alteration in purine metabolism.
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PMID:Gilles de la Tourette syndrome: further studies and thoughts. 27 3

This is a report on recent developments in pediatric psychopharmacology: new drugs and new applications for established drugs. The drugs reviewed include imipramine, amitryptiline, lithium, piracetam, propranolol, tryptophan, clonidine, pyridoxine and fenfluramine. Putative indications include prepubertal depression, school phobia, anorexia nervosa, explosive-aggressive behavior, learning disabilities, attention deficit disorder (hyperactivity), Tourette's syndrome, autism, and the Lesch-Nyhan syndrome. Some of the information presented in this report must be regarded as "preliminary," and caution is advised in its interpretation and application.
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PMID:New developments in pediatric psychopharmacology. 635 89

Self-injurious behaviour (SIB) is a frequently occurring and serious problem in autistic and non-autistic retarded children. This paper first summarizes clinical knowledge on SIB. Attention is paid to the Lesch-Nyhan syndrome and Tourette's syndrome as examples of clinical syndromes that are particularly associated with SIB. Then animal models are reviewed that suggest the involvement of dopaminergic, opioidergic and serotonergic mechanisms in the pathophysiology of SIB. The putative biochemical models of SIB in humans are discussed and pharmacological interventions are briefly outlined.
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PMID:Self-injurious behaviour in retarded children: clinical phenomena and biological mechanisms. 790 31

Self-injurious behaviours (SIBs) are defined as deliberate, repetitive and persistent behaviours that are directed towards the body and lead to physical injury and are not associated with sexual arousal and without suicidal intent. In movement disorders, SIBs are typically associated with tic disorders, most commonly Tourette syndrome, and neurometabolic conditions, such as classic Lesch-Nyhan syndrome. However, beyond these well-known aetiologies, a range of other movement disorder syndromes may also present with SIBs, even though this clinical association remains less well-known. Given the scarcity of comprehensive works on this topic, here we performed a systematic review of the literature to delineate the spectrum of movement disorder aetiologies associated with SIBs. We report distinct aetiologies, which are clustered in five different categorical domains, namely, neurodevelopmental, neurometabolic and neurodegenerative disorders, as well as disorders with characteristic structural brain changes and heterogeneous aetiologies (eg, autoimmune and drug-induced). We also provide insights in the pathophysiology of SIBs in these patients and discuss neurobiological key risk factors, which may facilitate their manifestation. Finally, we provide a list of treatments, including practical measures, such as protective devices, as well as behavioural interventions and pharmacological and neurosurgical therapies.
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PMID:Self-injurious behaviour in movement disorders: systematic review. 3243 Apr 38

Swearing is described in various neurological conditions such as Tourette syndrome, Lesch-Nyhan syndrome and post stroke or encephalitis. However, swearing as an ictal manifestation or automatism has rarely been reported. We herein describe a case with swearing as a predominant manifestation in focal epilepsy.
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PMID:A case of a 'rude' but not to be missed manifestation of epilepsy: ictal swearing. 3253 37