| 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 |
| Ilham El Atiallah, Giulia Ponterio, Maria Meringolo, Giuseppina Martella, Giuseppe Sciamanna, Annalisa Tassone, Martina Montanari, Maria Mancini, Antonio N Castagno, Libo Yu-Taeger, Hoa Huu Phuc Nguyen, Paola Bonsi, Antonio Pisan. Loss-of-function of GNAL dystonia gene impairs striatal dopamine receptors-mediated adenylyl cyclase/ cyclic AMP signaling pathway. Neurobiology of disease. 2024-01-05. PMID:38182074. |
loss-of-function of gnal dystonia gene impairs striatal dopamine receptors-mediated adenylyl cyclase/ cyclic amp signaling pathway. |
2024-01-05 |
2024-01-08 |
Not clear |
| Ke Pan, Hyder A Jinnah, Ellen J Hess, Yoland Smith, Rosa M Villalb. Ultrastructural analysis of nigrostriatal dopaminergic terminals in a knockin mouse model of DYT1 dystonia. The European journal of neuroscience. 2023-12-20. PMID:38123503. |
dyt1 dystonia is associated with decreased striatal dopamine release. |
2023-12-20 |
2023-12-23 |
mouse |
| Ke Pan, Hyder A Jinnah, Ellen J Hess, Yoland Smith, Rosa M Villalb. Ultrastructural analysis of nigrostriatal dopaminergic terminals in a knockin mouse model of DYT1 dystonia. The European journal of neuroscience. 2023-12-20. PMID:38123503. |
in this study, we examined the possibility that ultrastructural changes of nigrostriatal dopamine terminals could contribute to this neurochemical imbalance using a serial block face/scanning electron microscope (sbf/sem) and three-dimensional reconstruction to analyse striatal tyrosine hydroxylase-immunoreactive (th-ir) terminals and their synapses in a dyt1(Δe) knockin (dyt1-ki) mouse model of dyt1 dystonia. |
2023-12-20 |
2023-12-23 |
mouse |
| Ke Pan, Hyder A Jinnah, Ellen J Hess, Yoland Smith, Rosa M Villalb. Ultrastructural analysis of nigrostriatal dopaminergic terminals in a knockin mouse model of DYT1 dystonia. The European journal of neuroscience. 2023-12-20. PMID:38123503. |
altogether, these findings suggest that abnormal morphometric changes of nigrostriatal dopamine terminals and their post-synaptic targets are unlikely to be a major source of reduced striatal dopamine release in dyt1 dystonia. |
2023-12-20 |
2023-12-23 |
mouse |
| Elisabetta Indelicato, Sylvia Boesch, Niccolo' E Mencacci, Daniele Ghezzi, Holger Prokisch, Juliane Winkelmann, Michael Zec. Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine. Movement disorders : official journal of the Movement Disorder Society. 2023-11-15. PMID:37964479. |
dystonia in atp synthase defects: reconnecting mitochondria and dopamine. |
2023-11-15 |
2023-11-20 |
Not clear |
| Toshiharu Nagats. Catecholamines and Parkinson's disease: tyrosine hydroxylase (TH) over tetrahydrobiopterin (BH4) and GTP cyclohydrolase I (GCH1) to cytokines, neuromelanin, and gene therapy: a historical overview. Journal of neural transmission (Vienna, Austria : 1996). 2023-08-28. PMID:37638996. |
severe deficiencies in gch1 or th cause severe decreases in dopamine levels leading to severe neurological symptoms, whereas mild decreases in th activity in mild gch1 deficiency or in mild th deficiency result in only modest reductions in dopamine levels and symptoms of dopa-responsive dystonia (drd, segawa disease) or juvenile parkinsonism. |
2023-08-28 |
2023-09-07 |
human |
| Dora Steel, Kimberley M Reid, Antonio Pisani, Ellen J Hess, Susan Fox, Manju A Kuria. Advances in targeting neurotransmitter systems in dystonia. International review of neurobiology. vol 169. 2023-07-23. PMID:37482394. |
in this chapter we discuss the physiology of key neurotransmitters, including dopamine, noradrenaline, serotonin (5-hydroxytryptamine), acetylcholine, gaba, glutamate, adenosine and cannabinoids, and their role in dystonia. |
2023-07-23 |
2023-08-14 |
Not clear |
| Zoe Maria Dominique Reyes, Emma Lynch, Julia Henry, Lenika Marina De Simone, Sarah A Sobotk. Diagnosis of autism in a rare case of tyrosine hydroxylase deficiency: a case report. BMC medical genomics. vol 16. issue 1. 2023-04-11. PMID:37041529. |
some patients with thd have improvement in dystonia with carbidopa-levodopa, a synthetic form of dopamine typically used in parkinson's disease, and are considered to have dopa-responsive thd. |
2023-04-11 |
2023-08-14 |
Not clear |
| Anshita Arora, Shruti Bajaj, Nishant Rathod, Anaita U Hegd. Dopa-Responsive Dystonia: An Early Presentation of Ataxia-Telangiectasia. Annals of Indian Academy of Neurology. vol 25. issue 6. 2023-03-13. PMID:36911447. |
here, we report a case of genetically confirmed ataxia-telangiectasia with an initial presentation of dopamine responsive dystonia. |
2023-03-13 |
2023-08-14 |
Not clear |
| Kaitlyn M Roman, Maria A Briscione, Yuping Donsante, Jordan Ingram, Xueliang Fan, Douglas Bernhard, Simone A Campbell, Anthony M Downs, David Gutman, Tejas A Sardar, Sofia Q Bonno, Diane J Sutcliffe, H A Jinnah, Ellen J Hes. Striatal subregion-selective dysregulated dopamine receptor-mediated intracellular signaling in a model of DOPA-responsive dystonia. Neuroscience. 2023-03-05. PMID:36871883. |
striatal subregion-selective dysregulated dopamine receptor-mediated intracellular signaling in a model of dopa-responsive dystonia. |
2023-03-05 |
2023-08-14 |
mouse |
| Kaitlyn M Roman, Maria A Briscione, Yuping Donsante, Jordan Ingram, Xueliang Fan, Douglas Bernhard, Simone A Campbell, Anthony M Downs, David Gutman, Tejas A Sardar, Sofia Q Bonno, Diane J Sutcliffe, H A Jinnah, Ellen J Hes. Striatal subregion-selective dysregulated dopamine receptor-mediated intracellular signaling in a model of DOPA-responsive dystonia. Neuroscience. 2023-03-05. PMID:36871883. |
although the mechanisms underlying dystonia are largely unknown, dystonia is often associated with abnormal dopamine neurotransmission. |
2023-03-05 |
2023-08-14 |
mouse |
| Kaitlyn M Roman, Maria A Briscione, Yuping Donsante, Jordan Ingram, Xueliang Fan, Douglas Bernhard, Simone A Campbell, Anthony M Downs, David Gutman, Tejas A Sardar, Sofia Q Bonno, Diane J Sutcliffe, H A Jinnah, Ellen J Hes. Striatal subregion-selective dysregulated dopamine receptor-mediated intracellular signaling in a model of DOPA-responsive dystonia. Neuroscience. 2023-03-05. PMID:36871883. |
dopa-responsive dystonia (drd) is a prototype disorder for understanding dopamine dysfunction in dystonia because it is caused by mutations in genes necessary for the synthesis of dopamine and alleviated by the indirect-acting dopamine agonist l-dopa. |
2023-03-05 |
2023-08-14 |
mouse |
| Kaitlyn M Roman, Maria A Briscione, Yuping Donsante, Jordan Ingram, Xueliang Fan, Douglas Bernhard, Simone A Campbell, Anthony M Downs, David Gutman, Tejas A Sardar, Sofia Q Bonno, Diane J Sutcliffe, H A Jinnah, Ellen J Hes. Striatal subregion-selective dysregulated dopamine receptor-mediated intracellular signaling in a model of DOPA-responsive dystonia. Neuroscience. 2023-03-05. PMID:36871883. |
although adaptations in striatal dopamine receptor-mediated intracellular signaling have been studied extensively in models of parkinson's disease, another movement disorders associated with dopamine deficiency, little is known about dopaminergic adaptations in dystonia. |
2023-03-05 |
2023-08-14 |
mouse |
| Kaitlyn M Roman, Maria A Briscione, Yuping Donsante, Jordan Ingram, Xueliang Fan, Douglas Bernhard, Simone A Campbell, Anthony M Downs, David Gutman, Tejas A Sardar, Sofia Q Bonno, Diane J Sutcliffe, H A Jinnah, Ellen J Hes. Striatal subregion-selective dysregulated dopamine receptor-mediated intracellular signaling in a model of DOPA-responsive dystonia. Neuroscience. 2023-03-05. PMID:36871883. |
this complex interaction between striatal functional domains and dysregulated dopamine-receptor mediated responses has not been observed in other models of dopamine deficiency, such as parkinsonism, suggesting that regional variation in dopamine-mediated neurotransmission may be a hallmark of dystonia. |
2023-03-05 |
2023-08-14 |
mouse |
| Elliott Chinn, Nicholas D Brunette, Brian E Driver, Lauren R Klein, Jamie L Stang, Paige DeVries, Erika Mojica, Abagail Raiter, James R Miner, Jon B Col. Comparison of efficacy and frequency of akathisia and dystonia between olanzapine, metoclopramide and prochlorperazine in ED headache patients. The American journal of emergency medicine. vol 65. 2023-01-05. PMID:36603355. |
to compare the efficacy and frequency of akathisia and dystonia between the dopamine antagonist headache medications olanzapine, metoclopramide and prochlorperazine. |
2023-01-05 |
2023-08-14 |
Not clear |
| Juan A Moncayo, Maite Vargas, Juan F Ortiz, Pablo Granda, Alex S Aguirre, Jennifer Argudo, Willians Tambo, Gabriela Garofalo, Christian John Capirig, Melisa German-Montenegro, Luis G Rued. Relevance of Fluorodopa PET Scan in Dopamine Responsive Dystonia and Juvenile Parkinsonism: A Systematic Review. Neurology international. vol 14. issue 4. 2022-12-22. PMID:36548184. |
relevance of fluorodopa pet scan in dopamine responsive dystonia and juvenile parkinsonism: a systematic review. |
2022-12-22 |
2023-08-14 |
Not clear |
| Juan A Moncayo, Maite Vargas, Juan F Ortiz, Pablo Granda, Alex S Aguirre, Jennifer Argudo, Willians Tambo, Gabriela Garofalo, Christian John Capirig, Melisa German-Montenegro, Luis G Rued. Relevance of Fluorodopa PET Scan in Dopamine Responsive Dystonia and Juvenile Parkinsonism: A Systematic Review. Neurology international. vol 14. issue 4. 2022-12-22. PMID:36548184. |
dopamine responsive dystonia (drd) and juvenile parkinsonism (jp) are two diseases commonly presenting with parkinsonian symptoms in young patients. |
2022-12-22 |
2023-08-14 |
Not clear |
| Leonie F Becker, Sinem Tunc, Peter Murphy, Tobias Bäumer, Anne Weissbach, Martje G Pauly, Duha M Al-Shorafat, Gerard Saranza, Anthony E Lang, Christian Beste, Tobias H Donner, Julius Verrel, Alexander Müncha. Time estimation and arousal responses in dopa-responsive dystonia. Scientific reports. vol 12. issue 1. 2022-08-22. PMID:35995805. |
dopa-responsive dystonia (drd) is caused by an impaired dopamine biosynthesis due to a gtp-cyclohydrolase-1 (gch1) deficiency, resulting in a combination of dystonia and parkinsonism. |
2022-08-22 |
2023-08-14 |
human |
| Elze R Timmers, Débora E Peretti, Marenka Smit, Bauke M de Jong, Rudi A J O Dierckx, Anouk Kuiper, Tom J de Koning, David Vállez García, Marina A J Tijsse. Serotonergic system in vivo with [ Scientific reports. vol 12. issue 1. 2022-04-16. PMID:35428769. |
serotonergic system in vivo with [ gtp-cyclohydrolase deficiency in dopa-responsive dystonia (drd) patients impairs the biosynthesis of dopamine, but also of serotonin. |
2022-04-16 |
2023-08-13 |
Not clear |