| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Ali El-Kasaby, Ameya Kasture, Florian Koban, Matej Hotka, Hafiz M M Asjad, Helmut Kubista, Michael Freissmuth, Sonja Suci. Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome. Neuropharmacology. vol 161. 2020-07-14. PMID:30885608. |
folding-deficient mutants of the dopamine transporter and of the glycine transporter-2 cause infantile/juvenile parkinsonism dystonia and hyperekplexia, respectively. |
2020-07-14 |
2023-08-13 |
human |
| Alessio Di Fonzo, Giulia Franco, Paolo Barone, Roberto Err. Parkinsonism in diseases predominantly presenting with dystonia. International review of neurobiology. vol 149. 2020-06-01. PMID:31779818. |
here, we review the diseases predominantly presenting with dystonia where parkinsonism can develop, according to their main pathophysiological mechanism including disorders of dopamine biosynthesis, neurotransmitter transporter disorders, disorder of metal metabolism (i.e., iron, copper and manganese) and other inherited dystonia-parkinsonism conditions. |
2020-06-01 |
2023-08-13 |
Not clear |
| Mohammad Moshahid Khan, Jianfeng Xiao, T J Hollingsworth, Damini Patel, Dana E Selley, Trevor L Ring, Mark S LeDou. Gnal haploinsufficiency causes genomic instability and increased sensitivity to haloperidol. Experimental neurology. vol 318. 2020-03-02. PMID:31034808. |
dopamine d2 receptor (d2r) blockers such as haloperidol are mainstays in the treatment of psychosis but may contribute to the development of secondary acute and tardive dystonia. |
2020-03-02 |
2023-08-13 |
Not clear |
| Bastien Ribot, Jérome Aupy, Marie Vidailhet, Joachim Mazère, Antonio Pisani, Erwan Bezard, Dominique Guehl, Pierre Burbau. Corrigendum to "Dystonia and dopamine: From phenomenology to pathophysiology" [Prog. Neurobiol. 182 (November) (2019), 101678, 18]. Progress in neurobiology. vol 185. 2020-02-11. PMID:31928793. |
corrigendum to "dystonia and dopamine: from phenomenology to pathophysiology" [prog. |
2020-02-11 |
2023-08-13 |
Not clear |
| Uladzislau Rudakou, Bouchra Ouled Amar Bencheikh, Jennifer A Ruskey, Lynne Krohn, Sandra B Laurent, Dan Spiegelman, Christopher Liong, Stanley Fahn, Cheryl Waters, Oury Monchi, Edward A Fon, Yves Dauvilliers, Roy N Alcalay, Nicolas Dupré, Ziv Gan-O. Common and rare GCH1 variants are associated with Parkinson's disease. Neurobiology of aging. vol 73. 2019-12-19. PMID:30314816. |
gch1 encodes the enzyme guanosine triphospahte (gtp) cyclohydrolase 1, essential for dopamine synthesis in nigrostriatal cells, and rare mutations in gch1 may lead to dopa-responsive dystonia (drd). |
2019-12-19 |
2023-08-13 |
Not clear |
| Anthony M Downs, Xueliang Fan, Christine Donsante, H A Jinnah, Ellen J Hes. Trihexyphenidyl rescues the deficit in dopamine neurotransmission in a mouse model of DYT1 dystonia. Neurobiology of disease. vol 125. 2019-12-16. PMID:30707939. |
trihexyphenidyl rescues the deficit in dopamine neurotransmission in a mouse model of dyt1 dystonia. |
2019-12-16 |
2023-08-13 |
mouse |
| Anthony M Downs, Xueliang Fan, Christine Donsante, H A Jinnah, Ellen J Hes. Trihexyphenidyl rescues the deficit in dopamine neurotransmission in a mouse model of DYT1 dystonia. Neurobiology of disease. vol 125. 2019-12-16. PMID:30707939. |
because dty1 dystonia is associated with both abnormal cholinergic neurotransmission and abnormal dopamine regulation, we tested the hypothesis that trihexyphenidyl normalizes striatal dopamine release in a mouse model of dyt1 dystonia using ex vivo fast scan cyclic voltammetry and in vivo microdialysis. |
2019-12-16 |
2023-08-13 |
mouse |
| Bomi Sul, Joon Sung Kim, Bo Young Hong, Seong Hoon Li. The effect of dopamine for focal hand dystonia after stroke. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 40. issue 6. 2019-12-11. PMID:30635800. |
the effect of dopamine for focal hand dystonia after stroke. |
2019-12-11 |
2023-08-13 |
Not clear |
| Peter D Szigetvari, Gopinath Muruganandam, Juha P Kallio, Erik I Hallin, Agnete Fossbakk, Remy Loris, Inari Kursula, Lisbeth B Møller, Per M Knappskog, Petri Kursula, Jan Haavi. The quaternary structure of human tyrosine hydroxylase: effects of dystonia-associated missense variants on oligomeric state and enzyme activity. Journal of neurochemistry. vol 148. issue 2. 2019-10-28. PMID:30411798. |
missense variants of human th are associated with a recessive neurometabolic disease with low levels of brain dopamine and noradrenaline, resulting in a variable clinical picture, from progressive brain encephalopathy to adolescent onset dopa-responsive dystonia (drd). |
2019-10-28 |
2023-08-13 |
human |
| Xueliang Fan, Yuping Donsante, H A Jinnah, Ellen J Hes. Dopamine Receptor Agonist Treatment of Idiopathic Dystonia: A Reappraisal in Humans and Mice. The Journal of pharmacology and experimental therapeutics. vol 365. issue 1. 2019-05-28. PMID:29348266. |
although dystonia is often associated with abnormal dopamine neurotransmission, dopaminergic drugs are not currently used to treat dystonia because there is a general view that dopaminergic drugs are ineffective. |
2019-05-28 |
2023-08-13 |
mouse |
| Xueliang Fan, Yuping Donsante, H A Jinnah, Ellen J Hes. Dopamine Receptor Agonist Treatment of Idiopathic Dystonia: A Reappraisal in Humans and Mice. The Journal of pharmacology and experimental therapeutics. vol 365. issue 1. 2019-05-28. PMID:29348266. |
these results support a reconsideration of dopamine receptors as targets for the treatment of dystonia, particularly because recent genetic and diagnostic advances may facilitate the identification of the subtypes of dystonia patients who respond and those who do not. |
2019-05-28 |
2023-08-13 |
mouse |
| Kristina Simonyan, Hyun Cho, Azadeh Hamzehei Sichani, Estee Rubien-Thomas, Mark Hallet. The direct basal ganglia pathway is hyperfunctional in focal dystonia. Brain : a journal of neurology. vol 140. issue 12. 2019-05-23. PMID:29087445. |
we found that availability of dopamine d1 receptors was significantly increased in bilateral putamen by 19.6–22.5% in writer’s cramp and in right putamen and caudate nucleus by 24.6–26.8% in laryngeal dystonia (all p ≤ 0.009). |
2019-05-23 |
2023-08-13 |
Not clear |
| Kristina Simonyan, Hyun Cho, Azadeh Hamzehei Sichani, Estee Rubien-Thomas, Mark Hallet. The direct basal ganglia pathway is hyperfunctional in focal dystonia. Brain : a journal of neurology. vol 140. issue 12. 2019-05-23. PMID:29087445. |
our findings paralleled abnormally decreased dopaminergic function via the indirect basal ganglia pathway and decreased symptom-induced phasic striatal dopamine release in writer’s cramp and laryngeal dystonia. |
2019-05-23 |
2023-08-13 |
Not clear |
| Kristina Simonyan, Hyun Cho, Azadeh Hamzehei Sichani, Estee Rubien-Thomas, Mark Hallet. The direct basal ganglia pathway is hyperfunctional in focal dystonia. Brain : a journal of neurology. vol 140. issue 12. 2019-05-23. PMID:29087445. |
in conclusion, a comprehensive pathophysiological mechanism of abnormal basal ganglia function in focal dystonia is built upon upregulated dopamine d1 receptors that abnormally increase excitation of the direct pathway, downregulated dopamine d2 receptors that abnormally decrease inhibition within the indirect pathway, and weakened nigro-striatal phasic dopamine release during symptomatic task performance. |
2019-05-23 |
2023-08-13 |
Not clear |
| Woong-Woo Lee, Beomseok Jeon, Ryul Ki. Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike. Journal of Korean medical science. vol 33. issue 28. 2019-03-15. PMID:29983692. |
however, there have been many reports of dystonia responsive to dopaminergic drugs that do not fit into drd or drd-plus (genetic defects in the dopamine synthetic pathway without nigral cell loss). |
2019-03-15 |
2023-08-13 |
Not clear |
| Woong-Woo Lee, Beomseok Jeon, Ryul Ki. Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike. Journal of Korean medical science. vol 33. issue 28. 2019-03-15. PMID:29983692. |
examples of dystonia that is responsive to dopaminergic drugs include the following: transportopathies (dopamine transporter deficiency; vesicular monoamine transporter 2 deficiency); |
2019-03-15 |
2023-08-13 |
Not clear |
| Samuel J Rose, Porter Harrast, Christine Donsante, Xueliang Fan, Valerie Joers, Malú G Tansey, H A Jinnah, Ellen J Hes. Parkinsonism without dopamine neuron degeneration in aged l-dopa-responsive dystonia knockin mice. Movement disorders : official journal of the Movement Disorder Society. vol 32. issue 12. 2018-07-19. PMID:28949038. |
parkinsonism without dopamine neuron degeneration in aged l-dopa-responsive dystonia knockin mice. |
2018-07-19 |
2023-08-13 |
mouse |
| H M Mazhar Asjad, Ameya Kasture, Ali El-Kasaby, Michael Sackel, Thomas Hummel, Michael Freissmuth, Sonja Suci. Pharmacochaperoning in a The Journal of biological chemistry. vol 292. issue 47. 2018-01-23. PMID:28972153. |
pharmacochaperoning in a point mutations in the gene encoding the human dopamine transporter (hdat, slc6a3) cause a syndrome of infantile/juvenile dystonia and parkinsonism. |
2018-01-23 |
2023-08-13 |
human |
| b' M Svetel, A Tomi\\xc4\\x87, M Mijajlovi\\xc4\\x87, V Dobri\\xc4\\x8di\\xc4\\x87, I Novakovi\\xc4\\x87, T Pekmezovi\\xc4\\x87, L Brajkovi\\xc4\\x87, V S Kosti\\xc4\\x8. Transcranial sonography in dopa-responsive dystonia. European journal of neurology. vol 24. issue 1. 2017-12-22. PMID:27731537.' |
mutations in the gch1 gene, encoding gtp cyclohydrolase 1, the enzyme critically important for dopamine production in nigrostriatal neurons, are the most common cause of dopa-responsive dystonia (drd), characterized predominantly by limb dystonia, although parkinsonian features may also be present. |
2017-12-22 |
2023-08-13 |
Not clear |
| Jennifer R Friedma. What Is Not in the Name? Dopa-Responsive Dystonia May Respond to More Than L-Dopa. Pediatric neurology. vol 59. 2017-12-15. PMID:27080360. |
however, literal application of this label or consideration of dopa-responsive dystonia as a diagnostic end without molecular and/or biochemical definition may contribute to misdiagnosis and incomplete treatment in dopa-responsive conditions that impair synthesis of monoamine neurotransmitters besides dopamine. |
2017-12-15 |
2023-08-13 |
Not clear |