| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Rose E Goodchild, Kathrin Grundmann, Antonio Pisan. New genetic insights highlight 'old' ideas on motor dysfunction in dystonia. Trends in neurosciences. vol 36. issue 12. 2014-07-23. PMID:24144882. |
the gnal dystonia gene is central for striatal responses to dopamine (da) and is a component of a molecular pathway already implicated in dopa-responsive dystonia (drd). |
2014-07-23 |
2023-08-12 |
Not clear |
| Joanne Ng, Juan Zhen, Esther Meyer, Kevin Erreger, Yan Li, Naseebullah Kakar, Jamil Ahmad, Holger Thiele, Christian Kubisch, Nicholas L Rider, D Holmes Morton, Kevin A Strauss, Erik G Puffenberger, Daniela D'Agnano, Yair Anikster, Claudia Carducci, Keith Hyland, Michael Rotstein, Vincenzo Leuzzi, Guntram Borck, Maarten E A Reith, Manju A Kuria. Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. Brain : a journal of neurology. vol 137. issue Pt 4. 2014-05-21. PMID:24613933. |
dopamine transporter deficiency syndrome due to slc6a3 mutations is the first inherited dopamine 'transportopathy' to be described, with a classical presentation of early infantile-onset progressive parkinsonism dystonia. |
2014-05-21 |
2023-08-12 |
Not clear |
| Joanne Ng, Juan Zhen, Esther Meyer, Kevin Erreger, Yan Li, Naseebullah Kakar, Jamil Ahmad, Holger Thiele, Christian Kubisch, Nicholas L Rider, D Holmes Morton, Kevin A Strauss, Erik G Puffenberger, Daniela D'Agnano, Yair Anikster, Claudia Carducci, Keith Hyland, Michael Rotstein, Vincenzo Leuzzi, Guntram Borck, Maarten E A Reith, Manju A Kuria. Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. Brain : a journal of neurology. vol 137. issue Pt 4. 2014-05-21. PMID:24613933. |
patients presenting with parkinsonism dystonia or a neurotransmitter profile characteristic of dopamine transporter deficiency syndrome were recruited for study. |
2014-05-21 |
2023-08-12 |
Not clear |
| Joanne Ng, Juan Zhen, Esther Meyer, Kevin Erreger, Yan Li, Naseebullah Kakar, Jamil Ahmad, Holger Thiele, Christian Kubisch, Nicholas L Rider, D Holmes Morton, Kevin A Strauss, Erik G Puffenberger, Daniela D'Agnano, Yair Anikster, Claudia Carducci, Keith Hyland, Michael Rotstein, Vincenzo Leuzzi, Guntram Borck, Maarten E A Reith, Manju A Kuria. Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. Brain : a journal of neurology. vol 137. issue Pt 4. 2014-05-21. PMID:24613933. |
most significantly, the case series included three adolescent males with atypical dopamine transporter deficiency syndrome of juvenile onset (outside infancy) and progressive parkinsonism dystonia. |
2014-05-21 |
2023-08-12 |
Not clear |
| Wooyoung Jang, Joong-Seok Kim, Jin Whan Cho, Young Hwan Kim, Ji Young Kim, Yun Young Choi, Hee-Tae Ki. Cardiac sympathetic denervation in Parkinson's disease patients with SWEDDs. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 34. issue 8. 2014-03-20. PMID:23179185. |
the intermediate status of cardiac mibg uptake in the swedds patients in our study may have been due to the heterogeneity of the swedds patients; some of these patients had parkinsonism with unknown characteristics, some may have had early pd with false-negative dopamine transporter imaging, and some have had primary dystonia that was misdiagnosed as pd. |
2014-03-20 |
2023-08-12 |
human |
| Ohito Tano, Kimihiko Kaneko, Akio Kikuchi, Takafumi Hasegawa, Atsushi Takeda, Masashi Aok. [Dopaminergic drug-induced jaw-opening dystonia in a patient with progressive supranuclear palsy]. Rinsho shinkeigaku = Clinical neurology. vol 53. issue 4. 2014-02-28. PMID:23603547. |
the motor symptoms of psp sometimes respond to dopamine replacement therapy; however, it should be kept in mind that rapid dose-elevation and/or overdose of dopaminergic agents may cause jaw-opening dystonia. |
2014-02-28 |
2023-08-12 |
Not clear |
| Toshitaka Kawarai, Ryosuke Miyamoto, Nagahisa Murakami, Yoshimichi Miyazaki, Hidetaka Koizumi, Wataru Sako, Youhei Mukai, Kenta Sato, Shinichi Matsumoto, Takashi Sakamoto, Yuishin Izumi, Ryuji Kaj. [Dystonia genes and elucidation of their roles in dystonia pathogenesis]. Rinsho shinkeigaku = Clinical neurology. vol 53. issue 6. 2014-02-28. PMID:23782819. |
current known dystonia genes include those related to dopamine metabolism, transcription factor, cytoskeleton, transport of glucose and sodium ion, etc. |
2014-02-28 |
2023-08-12 |
Not clear |
| Katja Lohmann, Christine Klei. Genetics of dystonia: what's known? What's new? What's next? Movement disorders : official journal of the Movement Disorder Society. vol 28. issue 7. 2014-02-26. PMID:23893446. |
equally diverse and complex are the pathways and neuronal function(s) putatively involved in dystonia pathogenesis including dopamine signaling, intracellular transport, cytoskeletal dynamics, transcriptional regulation, cell-cycle control, ion channel function, energy metabolism, signal transduction, and detoxification mechanisms. |
2014-02-26 |
2023-08-12 |
Not clear |
| Masaya Segawa, Yoshiko Nomura, Masaharu Hayash. Dopa-responsive dystonia is caused by particular impairment of nigrostriatal dopamine neurons different from those involved in Parkinson disease: evidence observed in studies on Segawa disease. Neuropediatrics. vol 44. issue 2. 2013-09-11. PMID:23468278. |
dopa-responsive dystonia is caused by particular impairment of nigrostriatal dopamine neurons different from those involved in parkinson disease: evidence observed in studies on segawa disease. |
2013-09-11 |
2023-08-12 |
Not clear |
| Justus L Groen, Javier Simón-Sánchez, Katja Ritz, Zoltán Bochdanovits, Yue Fang, Jacobus J van Hilten, Majid Aramideh, Bart P van de Warrenburg, Agnita J W Boon, Frank Baas, Peter Heutink, Marina A J Tijsse. Cervical dystonia and genetic common variation in the dopamine pathway. Parkinsonism & related disorders. vol 19. issue 3. 2013-08-12. PMID:22981186. |
multiple lines of evidence point to a role for aberrant dopamine levels in dystonia. |
2013-08-12 |
2023-08-12 |
Not clear |
| Justus L Groen, Javier Simón-Sánchez, Katja Ritz, Zoltán Bochdanovits, Yue Fang, Jacobus J van Hilten, Majid Aramideh, Bart P van de Warrenburg, Agnita J W Boon, Frank Baas, Peter Heutink, Marina A J Tijsse. Cervical dystonia and genetic common variation in the dopamine pathway. Parkinsonism & related disorders. vol 19. issue 3. 2013-08-12. PMID:22981186. |
we assessed whether common variation within genes that regulate brain dopamine levels and in key genes of the dopamine metabolic pathway, modulate the risk for cervical dystonia. |
2013-08-12 |
2023-08-12 |
Not clear |
| Justus L Groen, Javier Simón-Sánchez, Katja Ritz, Zoltán Bochdanovits, Yue Fang, Jacobus J van Hilten, Majid Aramideh, Bart P van de Warrenburg, Agnita J W Boon, Frank Baas, Peter Heutink, Marina A J Tijsse. Cervical dystonia and genetic common variation in the dopamine pathway. Parkinsonism & related disorders. vol 19. issue 3. 2013-08-12. PMID:22981186. |
alternatively, found dopamine level changes are secondary to the dystonia disease processes. |
2013-08-12 |
2023-08-12 |
Not clear |
| Thilo Herzfeld, Dagmar Nolte, Maria Grznarova, Andrea Hofmann, Joachim L Schultze, Ulrich Mülle. X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism. Human molecular genetics. vol 22. issue 5. 2013-07-22. PMID:23184149. |
x-linked dystonia parkinsonism syndrome (xdp, lubag): disease-specific sequence change dsc3 in taf1/dyt3 affects genes in vesicular transport and dopamine metabolism. |
2013-07-22 |
2023-08-12 |
Not clear |
| Daniela Di Giuda, Giovanni Camardese, Anna Rita Bentivoglio, Fabrizio Cocciolillo, Arianna Guidubaldi, Lorella Pucci, Isabella Bruno, Luigi Janiri, Alessandro Giordano, Alfonso Fasan. Dopaminergic dysfunction and psychiatric symptoms in movement disorders: a 123I-FP-CIT SPECT study. European journal of nuclear medicine and molecular imaging. vol 39. issue 12. 2013-05-07. PMID:22976499. |
we assessed dopamine transporter (dat) availability by means of (123)i-fp-cit spect, and motor and psychiatric features in patients with parkinson's disease, primary dystonia and essential tremor, exploring the association between spect findings and symptom severity. |
2013-05-07 |
2023-08-12 |
Not clear |
| Keita Sasaki, Tatsuro Yamasaki, Idowu O Omotuyi, Masayoshi Mishina, Hiroshi Ued. Age-dependent dystonia in striatal Gγ7 deficient mice is reversed by the dopamine D2 receptor agonist pramipexole. Journal of neurochemistry. vol 124. issue 6. 2013-04-29. PMID:23311775. |
age-dependent dystonia in striatal gγ7 deficient mice is reversed by the dopamine d2 receptor agonist pramipexole. |
2013-04-29 |
2023-08-12 |
mouse |
| Leposava D Brajkovic, Marina V Svetel, Vladimir S Kostic, Dragana P Sobic-Saranovic, Smiljana V Pavlovic, Vera M Artiko, Vladimir B Obradovi. Dopamine transporter imaging (123)I-FP-CIT (DaTSCAN) SPET in differential diagnosis of dopa-responsive dystonia and young-onset Parkinson's disease. Hellenic journal of nuclear medicine. vol 15. issue 2. 2013-02-01. PMID:22833860. |
dopamine transporter imaging (123)i-fp-cit (datscan) spet in differential diagnosis of dopa-responsive dystonia and young-onset parkinson's disease. |
2013-02-01 |
2023-08-12 |
Not clear |
| Chang-Hyun Song, Xueliang Fan, Cicely J Exeter, Ellen J Hess, H A Jinna. Functional analysis of dopaminergic systems in a DYT1 knock-in mouse model of dystonia. Neurobiology of disease. vol 48. issue 1. 2013-01-14. PMID:22659308. |
since some forms of dystonia have been linked with dysfunction of brain dopamine pathways, the integrity of these pathways was explored in a knock-in mouse model of dyt1 dystonia. |
2013-01-14 |
2023-08-12 |
mouse |
| Chang-Hyun Song, Xueliang Fan, Cicely J Exeter, Ellen J Hess, H A Jinna. Functional analysis of dopaminergic systems in a DYT1 knock-in mouse model of dystonia. Neurobiology of disease. vol 48. issue 1. 2013-01-14. PMID:22659308. |
these results demonstrate that this dyt1(Δe) knock-in mouse model of dystonia harbors neurochemical and structural changes of the dopamine pathways, as well as motor abnormalities. |
2013-01-14 |
2023-08-12 |
mouse |
| G Linazasoro, M T Garmendia, X Lizas. Acute dystonia in a young schizophrenic patient associated with ingestion of a cloperastine containing cough syrup. Parkinsonism & related disorders. vol 6. issue 1. 2012-10-02. PMID:18591150. |
we suggest that antihistaminic agents may induce acute dystonia by altering the balance between dopamine and acetylcholine in the striatum. |
2012-10-02 |
2023-08-12 |
Not clear |
| J Gerlach, L Hanse. Effect of chronic treatment with NNC 756, a new D-1 receptor antagonist, or raclopride, a D-2 receptor antagonist, in drug-naive Cebus monkeys: dystonia, dyskinesia and D-1/D-2 supersensitivity. Journal of psychopharmacology (Oxford, England). vol 7. issue 4. 2012-10-02. PMID:22290999. |
when given subcutaneously in gradually increasing doses, up to 1 mg/kg, nnc 756, a dopamine (da) d-1 antagonist, failed to produce dystonia in eight drug-naive cebus monkeys. |
2012-10-02 |
2023-08-12 |
monkey |