|3.||Mental Retardation (Idiocy)
|4.||Nervous System Diseases (Neurological Disorders)
|1.||Jinnah, H A: 24 articles (04/2015 - 04/2000)|
|2.||Nyhan, William L: 12 articles (01/2015 - 07/2003)|
|3.||Torres, R J: 11 articles (11/2015 - 03/2001)|
|4.||Puig, J G: 10 articles (11/2015 - 03/2001)|
|5.||Torres, Rosa J: 10 articles (12/2012 - 02/2004)|
|6.||Puig, Juan G: 9 articles (12/2012 - 02/2004)|
|7.||Seifert, Roland: 8 articles (11/2015 - 08/2002)|
|8.||Nguyen, Khue Vu: 8 articles (10/2015 - 06/2011)|
|9.||Friedmann, Theodore: 7 articles (03/2015 - 02/2002)|
|10.||Yamada, Yasukazu: 7 articles (01/2015 - 10/2004)|
|1.||Hypoxanthine Phosphoribosyltransferase (Hypoxanthine Guanine Phosphoribosyltransferase)IBA
01/01/2014 - "Expansion of our knowledge with molecular genetic methodology has helped to better identify and characterize mutations such as those which occur with the enzyme hypoxanthine guanine phosphoribosyltransferase (HPRT), and this has enhanced our understanding of phenotypical expression of Lesch-Nyhan syndrome and Lesch-Nyhan variants. "
11/01/2006 - "Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch-Nyhan disease)."
01/01/1989 - "Lesch-Nyhan syndrome and HPRT variants: study of heterogeneity at the gene level."
03/05/1986 - "To study the relationships between HPRT, the defective enzyme in Lesch-Nyhan syndrome, and the DA neuronal systems, we have measured the effects of nigro-striatal DA degeneration and intrastriatal neuronal degeneration on HPRT activity. "
01/01/1984 - "Studies in fibroblasts of patients with the Lesch-Nyhan syndrome and HPRT variants. "
|2.||Uric Acid (Urate)IBA
01/01/2006 - "Lesch-Nyhan syndrome is a familial disorder of uric acid metabolism and dysfunction of the central nervous system. "
01/01/1977 - "[Lesch-Nyhan syndrome--encephalopathy with total concentration of uric acid in the blood]."
08/01/2014 - "In cases of gouty arthritis with urate overproduction, a careful evaluation for motor impairments or neurocognitive abnormalities may help to identify attenuated variants of Lesch-Nyhan disease for better management. "
02/01/1972 - "[Self mutilation behavior and uric acid metabolism disorders in an adult (Lesch-Nyhan syndrome?)]."
11/01/1994 - "Lesch-Nyhan syndrome is a rare X-linked disease characterized by over-production of uric acid and a central nervous system (CNS) disorder consisting of mental retardation, spasticity, choreoathetosis, and a compulsive form of self-mutilation. "
|3.||Neurotransmitter Agents (Neurotransmitter)IBA
05/01/1988 - "Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters."
09/01/2000 - "The neurological symptoms of Lesch-Nyhan syndrome (LNS) are assumed to result from the neurotransmitter changes in this disorder. "
09/01/2000 - "Neurotransmitter changes in the pathophysiology of Lesch-Nyhan syndrome."
06/01/1985 - "Lesch-Nyhan syndrome: CSF neurotransmitter abnormalities."
11/05/1981 - "Neurotransmitters and the Lesch-Nyhan syndrome."
|4.||Levodopa (L Dopa)FDA LinkGeneric
03/01/2011 - "Levodopa is not a useful treatment for Lesch-Nyhan disease."
07/15/2008 - "Levodopa therapy in a Lesch-Nyhan disease patient: pathological, biochemical, neuroimaging, and therapeutic remarks."
12/26/1970 - "Levodopa side-effects and the Lesch-Nyhan syndrome."
12/01/2011 - "Diagnoses included the following: DYT1 primary dystonia (autosomal dominant, Tor1AΔGAG mutation, 10 cases), non-DYT1 primary dystonia (3 cases), secondary dystonia (11 cases), neurodegeneration with brain iron accumulation (NBIA, 3 cases), levodopa-responsive parkinsonism (2 cases), Lesch-Nyhan disease (1 case), and glutaric aciduria Type 1 (1 case). "
10/01/2006 - "A man with Lesch-Nyhan disease (LND; OMIM 300322) experienced significantly reduced self-injury and improved comfort while receiving S-adenosylmethionine."
08/01/2014 - "Treatment of Lesch-Nyhan disease with S-adenosylmethionine: experience with five young Malaysians, including a girl."
10/01/2006 - "Dramatic reduction in self-injury in Lesch-Nyhan disease following S-adenosylmethionine administration."
|6.||Botulinum Toxins (Botulinum Toxin)IBA
|7.||Clozapine (Clozaril)FDA LinkGeneric
|8.||rasburicase (Elitek)FDA Link
|9.||gabapentin (Neurontin)FDA LinkGeneric
10/01/2008 - "The aim of this study was to investigate the effects of intrastriatal injection of hypoxanthine, the major compound accumulated in Lesch-Nyhan disease, on performance step-down inhibitory avoidance task in the rat. "
03/01/2007 - "The aim of this study was to investigate the effects of intrastriatal injection of hypoxanthine, a metabolite accumulated in Lesch-Nyhan disease, on rats' performance in the Morris water maze tasks, along with the monoamine content in striatum of rats. "
11/06/2008 - "We suggest that these hypoxanthine-induced biochemical modifications could, at least in part, participate in the pathophysiology of Lesch Nyhan disease."
01/01/1989 - "The results suggest that high doses of hypoxanthine exert a nonspecific sedative effect on both patients with Lesch-Nyhan syndrome and healthy controls. "
06/01/1973 - "Lesch-Nyhan syndrome: incorporation of hypoxanthine in stimulated lymphocytes."
|1.||Deep Brain Stimulation
02/01/2015 - "Remarkable clinical improvement with bilateral globus pallidus internus deep brain stimulation in a case of Lesch-Nyhan disease: five-year follow-up."
01/01/2012 - "Pallidal deep-brain stimulation associated with complete remission of self-injurious behaviors in a patient with Lesch-Nyhan syndrome: a case report."
01/01/2012 - "The purpose of this case report is to review the management of a boy with Lesch-Nyhan syndrome with deep-brain stimulation who had remission of self-injurious behaviors as a result. "
|3.||Bone Marrow Transplantation (Transplantation, Bone Marrow)
01/01/1991 - "Bone marrow transplantation in Lesch-Nyhan disease."
01/01/1986 - "Bone marrow transplantation in Lesch-Nyhan disease."
01/01/1986 - "Bone marrow transplantation in Lesch-Nyhan disease."
|4.||Drug Therapy (Chemotherapy)
01/01/2006 - "The dopamine transporter (DAT) is a target for the development of pharmacotherapies for a number of central disorders including Parkinson's disease, Alzheimer's disease, schizophrenia, Tourette's syndrome, Lesch-Nyhan disease, attention deficit hyperactivity disorder (ADHD), obesity, depression, and stimulant abuse as well as normal aging. "
07/27/2001 - "Hypoxanthine phosphoribosyltransferases (HPRTs) are of biomedical interest because defects in the enzyme from humans can result in gouty arthritis or Lesch-Nyhan syndrome, and in parasites these enzymes are potential targets for antiparasite chemotherapy. "
03/25/1997 - "Hypoxanthine-guanine phosphoribosyltransferase (HGPRTase) is the locus of Lesch-Nyhan syndrome, the activator of the prodrugs 6-mercaptopurine and allopurinol, and a target for antiparasitic chemotherapy. "
|5.||Investigational Therapies (Experimental Therapy)