| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jasper E Visser, Odelia Chorin, H A Jinna. Very Early Levodopa May Prevent Self-Injury in Lesch-Nyhan Disease. Pediatric neurology. vol 155. 2024-04-23. PMID:38653184. |
in lesch-nyhan disease (lnd), early dopamine deficiency is thought to contribute to dystonia and self-injury, gradually developing over the first years of life. |
2024-04-23 |
2024-04-26 |
Not clear |
| Jasper E Visser, Odelia Chorin, H A Jinna. Very Early Levodopa May Prevent Self-Injury in Lesch-Nyhan Disease. Pediatric neurology. vol 155. 2024-04-23. PMID:38653184. |
based on the hypothesis that very early dopamine replacement can prevent full phenotypic development, we treated three patients with lnd from infancy with levodopa. |
2024-04-23 |
2024-04-26 |
Not clear |
| J S Witteveen, S R Loopstok, L Luque Ballesteros, A Boonstra, N H M van Bakel, W H P van Boekel, G J M Martens, J E Visser, S M Kol. HGprt deficiency disrupts dopaminergic circuit development in a genetic mouse model of Lesch-Nyhan disease. Cellular and molecular life sciences : CMLS. vol 79. issue 6. 2022-06-06. PMID:35660973. |
it has been known for decades that lnd is associated with dysfunction of midbrain dopamine neurons, without overt structural brain abnormalities. |
2022-06-06 |
2023-08-14 |
mouse |
| Stephen Meek, Alison J Thomson, Linda Sutherland, Matthew G F Sharp, Julie Thomson, Valerie Bishop, Simone L Meddle, Yoann Gloaguen, Stefan Weidt, Karamjit Singh-Dolt, Mia Buehr, Helen K Brown, Andrew C Gill, Tom Burdo. Reduced levels of dopamine and altered metabolism in brains of HPRT knock-out rats: a new rodent model of Lesch-Nyhan Disease. Scientific reports. vol 6. 2018-03-26. PMID:27185277. |
targeted ms/ms analysis identified reduced levels of dopamine in the brains of hprt-deficient animals, consistent with deficits noted previously in human lnd patients and hprt knock-out mice. |
2018-03-26 |
2023-08-13 |
mouse |
| Ghiabe-Henri Guibinga, Gorjan Hrustanovic, Kathryn Bouic, Hyder A Jinnah, Theodore Friedman. MicroRNA-mediated dysregulation of neural developmental genes in HPRT deficiency: clues for Lesch-Nyhan disease? Human molecular genetics. vol 21. issue 3. 2012-08-30. PMID:22042773. |
mutations in the gene encoding the purine biosynthetic enzyme hypoxanthine-guanine phosphoribosyltransferase (hprt) cause the intractable neurodevelopmental lesch-nyhan disease (lnd) associated with aberrant development of brain dopamine pathways. |
2012-08-30 |
2023-08-12 |
human |
| Lina Mastrangelo, Ji-Eun Kim, Atsushi Miyanohara, Tae Hyuk Kang, Theodore Friedman. Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase. Proceedings of the National Academy of Sciences of the United States of America. vol 109. issue 9. 2012-05-08. PMID:22331909. |
lesch-nyhan disease (lnd) is an x-linked genetic disorder caused by mutations of the hypoxanthine guanine phosphoribosyltransferase (hprt) purine biosynthesis gene and characterized by aberrant purine metabolism, deficient basal ganglia dopamine levels, dystonia, and severe neurobehavioral manifestations, including compulsive self-injurious behavior. |
2012-05-08 |
2023-08-12 |
human |
| Jasper E Visser, David J Schretlen, Bastiaan R Bloem, Hyder A Jinna. Levodopa is not a useful treatment for Lesch-Nyhan disease. Movement disorders : official journal of the Movement Disorder Society. vol 26. issue 4. 2011-08-15. PMID:21506156. |
lnd is associated with a presynaptic dopaminergic deficit, but the reported effects of dopamine replacement therapy are conflicting. |
2011-08-15 |
2023-08-12 |
human |
| Mercedes Serrano, Belen Pérez-Dueñas, Aida Ormazábal, Rafael Artuch, Jaume Campistol, Rosa J Torres, Angels García-Cazorl. Levodopa therapy in a Lesch-Nyhan disease patient: pathological, biochemical, neuroimaging, and therapeutic remarks. Movement disorders : official journal of the Movement Disorder Society. vol 23. issue 9. 2009-01-12. PMID:18528895. |
we report an lnd patient with low dopamine metabolite values in cerebrospinal fluid for whom early levodopa/carbidopa therapy was begun with a notable clinical improvement. |
2009-01-12 |
2023-08-12 |
Not clear |
| Ling T Guo, Theodore Friedmann, Charles C Kin. Partial characterization of the proteome of the mouse striatum. Proteomics. vol 7. issue 21. 2008-01-22. PMID:17922512. |
many studies have demonstrated that the both human lnd patients and a mouse knockout model of hprt deficiency have significantly reduced levels and uptake of dopamine in the striatum [4, 13-16] that is likely to be the principal cause of the cns disorder. |
2008-01-22 |
2023-08-12 |
mouse |
| Pippa S Loupe, Xiao Zhou, Malonne I Davies, Stephen R Schroeder, Richard E Tessel, Susan M Lunt. Fixed ratio discrimination training increases in vivo striatal dopamine in neonatal 6-OHDA-lesioned rats. Pharmacology, biochemistry, and behavior. vol 74. issue 1. 2003-03-21. PMID:12376153. |
massed training in the conditional discrimination task, the fixed ratio discrimination (frd) task led to elevated extracellular dopamine (da) concentrations in the neonatal 6-hydroxydopamine (6-ohda)-treated rat, a model of lesch-nyhan disease (lnd). |
2003-03-21 |
2023-08-12 |
rat |
| J E Visser, P R Bär, H A Jinna. Lesch-Nyhan disease and the basal ganglia. Brain research. Brain research reviews. vol 32. issue 2-3. 2000-06-21. PMID:10760551. |
though neuropathologic studies of autopsy specimens have revealed no obvious neuroanatomical abnormalities in lnd, neurochemical studies have demonstrated 60-90% reductions in the dopamine content of the basal ganglia. |
2000-06-21 |
2023-08-12 |
Not clear |
| D F Wong, J C Harris, S Naidu, F Yokoi, S Marenco, R F Dannals, H T Ravert, M Yaster, A Evans, O Rousset, R N Bryan, A Gjedde, M J Kuhar, G R Brees. Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo. Proceedings of the National Academy of Sciences of the United States of America. vol 93. issue 11. 1996-07-17. PMID:8643611. |
dopamine (da) deficiency has been implicated in lesch-nyhan disease (lnd), a genetic disorder that is characterized by hyperuricemia, choreoathetosis, dystonia, and compulsive self-injury. |
1996-07-17 |
2023-08-12 |
human |