Page last updated: 2024-08-17

levodopa and Adult-Onset Dystonias

levodopa has been researched along with Adult-Onset Dystonias in 121 studies

Research

Studies (121)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	38 (31.40)	29.6817
2010's	58 (47.93)	24.3611
2020's	25 (20.66)	2.80

Authors

Authors	Studies
de Koning, TJ; Hof, IH; Kema, IP; Kuiper, A; Niezen-Koning, KE; Smit, M; Tijssen, MAJ; Timmers, ER; van Faassen, M	1
Balint, B; Bhatia, KP; Fung, VSC; Morales-Briceno, H	1
Beyer, K; De la Torre-Aguilar, MJ; Fernández-Ramos, JA; López-Laso, E; Pérez-Navero, JL; Quintáns, B	1
Emrick, L; Hull, M; Parnes, M; Sadat, R	1
Berger, SI; Miller, I; Tochen, L	1
Eskow Jaunarajs, KL; Hess, EJ; Scarduzio, M; Standaert, DG	1
de Jong, BM; de Koning, TJ; Dierckx, RAJO; Kuiper, A; Peretti, DE; Smit, M; Tijssen, MAJ; Timmers, ER; Vállez García, D	1
Cerquera-Cleves, C; Dulski, J; Koziorowski, D; Kwiatek-Majkusiak, J; Milanowski, L; Pentela-Nowicka, J; Ross, OA; Sławek, J; Wszolek, ZK	1
Ganaraja, VH; Kodapala, S; Krishnaveni, V; Mala, K	1
Belvisi, D; Berardelli, A; Bologna, M; Conte, A; Guerra, A; Kamble, N; Pal, PK; Valls-Solè, J	1
Al-Shorafat, DM; Bäumer, T; Becker, LF; Beste, C; Donner, TH; Lang, AE; Münchau, A; Murphy, P; Pauly, MG; Saranza, G; Tunc, S; Verrel, J; Weissbach, A	1
Biskup, S; Fietzek, UM; Mueller, C; Schneider, SA; Schroeder, AS	1
Cherian, A; K P, D; Krishnan, S; Vijayaraghavan, A	1
Chen, Z; Guo, Y; Hou, M; Hu, J; Liu, P; Liu, Y; Song, J; Wei, W; Yang, C	1
Calabresi, P; Standaert, DG	1
Baker, MR; Baker, SN; Chatterjee, K; Choudhury, S; Halder, S; Kumar, H; Mondal, B; Roy, A; Singh, R	1
Gallentine, WB; Mikati, MA; Trau, SP	1
Choi, JH; Jeon, B; Kim, HJ; Kim, R; Park, S; Shin, J; Woo, KA; Yoo, D	1
Başak, AN; Gündüz, A; Kızıltan, G; Kızıltan, ME; Ser, MH; Tekgül, Ş	1
Bhidayasiri, R; Panyakaew, P; Thongchuam, Y	1
Dong, HY; Feng, JY; Jia, FY; Shan, L; Yue, XJ	1
Groß, K; Kleinschmidt, S	1
Cherian, A; Divya, KP; Paramasivan, NK	1
Janssen, E; Nicolai, J; Oosterloo, M; Rubio-Gozalbo, E; van Gassen, K	1
Akiyama, T; Hanaoka, Y; Kaji, R; Kawarai, T; Kobayashi, K; Miyamoto, R; Yoshinaga, H	1
Al-Shorafat, DM; Bäumer, T; Beste, C; Brown, MJN; Brüggemann, N; Klein, C; Lang, AE; Lohmann, K; Münchau, A; Pauly, MG; Saranza, G; Steinmeier, A; Tadic, V; Weissbach, A	1
Alt, K; Berner, D; Krämer, J; Meinhardt, T; Wenzel, M; Winkelmann, J; Winter, B; Zech, M	1
Bradley, M; Coleman, S; Lyons, S; Molloy, F; Vance, R; Widdess-Walsh, P	1
Kim, MS; Yoon, JH	1
Barichella, M; Cassani, E; Cereda, E; Ferri, V; Goldwurm, S; Iorio, L; Pezzoli, G; Pinelli, G; Pusani, C; Sacilotto, G; Siri, C; Zini, M; Zorzi, GS	1
Augustine, EF; Gilbert, DL	1
Goswami, JN; Sankhyan, N; Singhi, PD	1
Donsante, C; Fan, X; Harrast, P; Hess, EJ; Jinnah, HA; Joers, V; Rose, SJ; Tansey, MG	1
Coleman, M	1
Maas, RPPWM; van de Warrenburg, BPC; Willemsen, MAAP	1
Chen, TH; Liu, YL; Lu, CS; Lu, MK; Tsai, CH; Wang, WC; Yang, CC; Yeh, TH	1
Chitayat, D; Fehlings, D; Pipo-Deveza, J; Sroka, H; Tein, I; Yoon, G	1
Bendi, VS; Joy, S; Shou, J; Torres-Russotto, D	1
Wang, CC; Weng, YC; Wu, YR	1
Jeon, B; Kim, R; Lee, WW	1
Balint, B; Bhatia, KP; Jankovic, J; Mencacci, NE; Pisani, A; Rothwell, J; Valente, EM; Vidailhet, M	1
Feng, B; Kong, Q; Li, Q; Sun, G	1
Jog, MS; Murgai, A; Sharma, S	1
Koht, J; Oppebøen, M; Randby, H; Salvador, CL; Skogseid, IM	1
Bertram, KL; Fung, WKW	1
Ahn, TB; Cho, JW; Chung, SJ; Hong, JY; Jeon, B; Koh, SB; Kwon, DY; Lee, JH; Lee, JY; Lee, WW; Park, HY; Shin, C	1
Jankovic, J; Niemann, N	1
Jinnah, HA	1
Bézard, E; Obeso, JA; Olanow, CW	1
Jeon, BS; Kim, JM; Lee, JY; Yang, HJ	1
Alcalay, RN; Goldman, JS; Greene, PE; Kubisch, C; Thenganatt, MA; Virmani, T	1
Baschieri, F; Batla, A; Bhatia, KP; Cordivari, C; Erro, R; Ganos, C	1
Berg, J; Crooks, K; Evans, J; Fan, Z; Felix, AC; Greenwood, R; Roche, M; Shiloh-Malawsky, Y; Tennison, M; Weck, K; Wilhelmsen, K	1
Bjørnarå, KA; Blau, N; Koht, J; Opladen, T; Rengmark, A; Selberg, T; Tallaksen, CM; Toft, M	1
Chen, WJ; Lin, MT; Lin, X; Lin, Y; Wang, DN; Wang, N	1
Choi, JK; Hong, JY; Ki, CS; Kim, J; Kim, JI; Lee, JW	1
Gu, X; Han, L; Qiu, W; Tan, D; Ye, J; Zhang, H; Zhang, Y	1
Arsenault, L; Broussolle, E; Delporte, L; Luauté, J; Mizuno, K; Rebour, R; Revol, P; Rossetti, Y	1
Artuch, R; De Castro, P; Domingo-Jiménez, R; Duarte, ST; Fernández-Álvarez, E; García-Cazorla, A; Ormazábal, A; Ortez, C; Pérez, A; Pineda, M; Pons, R; Serrano, M; Yapici, Z	1
Aparicio-Martinez, MJ; Fernández-López, M; Moya-Jiménez, MC; Perea-Rodriguez, A; Perea-Rodriguez, C; Rubí-Callejón, J	1
D'Abreu, A; França, MC; Friedman, JH; Lopes-Cendes, I; Martinez, AR; Nunes, MB; Rezende, TJ	1
Kaminska, M; Lin, JP; Lumsden, DE; Tomlin, S	1
Jain, R; Mittal, M; Shukla, B	1
Mottet, L	1
Brajković, L; Dobričić, V; Kostić, VS; Mijajlović, M; Novaković, I; Pekmezović, T; Svetel, M; Tomić, A	1
Coenen, VA; Fischer, J; Frings, L; Jost, M; Klebe, S; Meyer, PT; Piroth, T; Rauschendorf, MA; Reinacher, PC; Rijntjes, M; Rösler, B; Stock, F; Weiller, C; Zimmer, A	1
Carbonetti, R; Giannini, MT; Hoffmann, GF; Leuzzi, V; Mastrangelo, M	1
Cho, JH; Choi, YB; Hong, KM; Kim, YS; Lee, JH; Lee, SD; Paik, MK; Shin, CH; Yang, SH	1
Hasegawa, K; Ikeda, T; Kanmura, K; Kodama, Y; Nunoi, H; Sawada, K	1
Goto, S; Graybiel, AM; Ichinose, H; Ikemoto, K; Ito, M; Kaji, R; Nagahiro, S; Nagatsu, I; Nomura, T; Sako, W; Sato, K; Sumi-Ichinose, C	1
Godard, AL; Oliveira, LR; Rocha, VL; Souza, CP; Trindade, AL; Valadares, ER	1
Aste, R; Cannas, A; Congia, S; Floris, G; Marrosu, MG; Solla, P; Tacconi, P	1
Abada, M; Bouteiller, D; Brice, A; Camuzat, A; Castelnau, P; Cazeneuve, C; Chabrol, B; Clot, F; Damier, P; Doummar, D; Durr, A; Fedirko, E; Gil, R; Grabli, D; Hutchinson, M; Landrieu, P; LeGuern, E; Nguyen, K; Picard, F; Ponsot, G; Roze, E; Sân, C; Thobois, S; Toutain, A; Vidailhet, M; Ward, AJ	1
Bernard, G; Chouinard, S; Vanasse, M	1
Bahi-Buisson, N; Doummar, D; Echenne, B; Payet, C; Roubertie, A; Roze, E	1
Basaran, S; Karaca, E; Seven, M; Yosunkaya, E; Yüksel, A	1
Classen, J; Hallett, M; Morgante, F; Quartarone, A; Rosenkranz, K	1
Braschinsky, M; Doherty, K; Hotter, A; Lees, AJ; Ling, H; Lüüs, SM; Poewe, W; Taba, P	1
Bainbridge, MN; Fink, JK; Friedman, J; Gibbs, RA; Gingras, MC; Gonzaga-Jauregui, C; Hoang, LD; Lupski, JR; Morgan, MB; Murdock, DR; Muzny, DM; Newsham, I; Reid, JG; Wiszniewski, W; Yousaf, S	1
Irie, S; Kanazawa, N; Mochizuki, H; Nomura, Y; Ryoh, M; Segawa, M	1
Jo, M; Shinoda, M; Tachi, N; Takahashi, S	1
Ahlskog, JE; Josephs, KA; Kumar, N; Matsumoto, JY; McKeon, A; Savica, R	1
Cho, JW; Ki, CS; Kim, DS; Kim, S; Lee, JH; Park, KP	1
Eggers, C; Fink, GR; Kahraman, D; Leube, B; Schmidt, M; Timmermann, L; Volk, AE	1
Chi, CS; Lee, HF; Tsai, CR	1
Matsubara, S; Watanabe, T	1
Camargos, S; Cardoso, F; Lees, AJ; Singleton, A	1
Camargos, S; Cardoso, F	1
Blau, N; Hoffmann, GF; Kühn, AA; Opladen, T	1
Artuch, R; Cormand, B; Dinopoulos, A; Garzía-Cazorla, A; Orfanou, I; Ormazabal, A; Pons, R; Serrano, M; Syrengelas, D; Youroukos, S	1
Calne, DB; De La Fuente-Fernández, R; Furtado, S; Furukawa, Y; Guttman, M; Lee, CS; Ruth, TJ; Stoessl, AJ	1
Grossman, RG; Hamilton, WJ; Jankovic, J; Kalhorn, CG; Ondo, WG; Sanghera, MK	1
Carr, LJ; Noordeen, HH; Tsirikos, AI	1
Bruno, MK; Considine, E; Garraux, G; Gwinn-Hardy, K; Hallett, M; Hanson, M; Johnson, J; Ptacek, L; Ravina, B; Singleton, A	1
Nomura, Y; Segawa, M	1
Moorthy, SG; Nandagopal, R	1
Hamani, C; Lozano, A; Toda, H	1
Castro, A; Dapena, MD; Linazasoro, G; Van Blercom, N	1
Cindro-Heberle, L; Frelih, J; Kopac, S; Neubauer, D; Zupancic, N	1
Xiao, L; Yang, J; Yuan, XQ	1
Hedrich, K; Kann, M; Kis, B; Klein, C; Kömpf, D; Pramstaller, PP; Schwinger, E	1
Furuya, H; Ichinose, H; Kira, J; Kishi, T; Murai, H; Ohyagi, Y; Takasugi, K; Urano, F	1
Furukawa, Y	1
Bhatia, KP; Edwards, MJ; Huang, YZ; Mir, P; Rothwell, JC; Trender-Gerhard, I	1
Bhat, DP; Carrick, E; Kamal, N	1
Chaila, EC; Costello, DJ; Delanty, N; McCabe, DJ; Murphy, RP	1
Grant, PE; Sims, KB; Venna, N	1
Budrewicz, SP; Góral, M; Koszewicz, M; Podemski, R; Tarantowicz, P	1
Hanajima, R; Nomura, Y; Segawa, M; Ugawa, Y	1
Chieng, KS; Gosalakkal, JA; Hussain, N	1
Brockmann, K; Feiner, C; Henke, L; Müller, U; Steinberger, D; Troidl, C; von der Hagen, M; Zirn, B	1
Gordon, N	1
Cheyette, BN; Cheyette, SN; Cusmano-Ozog, K; Enns, GM	1
Segawa, M	1
Nutt, JG; Nygaard, TG	1
Factor, SA; Lava, NS	1
Benabou, R; Cubo, E; Goetz, CG; Gracies, JM; Leurgans, S; Olanow, CW; Raman, R	1
Basu, S; Goraya, JS; Mittal, R	1
Ko, CH; Kong, CK; Lam, CW; Tong, SF	1
Evidente, VG; Gwinn-Hardy, K; Hardy, J; Hernandez, D; Singleton, A	1
Bindoff, LA; Farbu, E	1

Reviews

17 review(s) available for levodopa and Adult-Onset Dystonias

Article	Year
Parkinsonism and dystonia: Clinical spectrum and diagnostic clues. Journal of the neurological sciences, 2022, Feb-15, Volume: 433 Topics: Animals; Dystonia; Dystonic Disorders; Humans; Levodopa; Movement Disorders; Parkinsonian Disorders	2022
Striatal Synaptic Dysfunction in Dystonia and Levodopa-Induced Dyskinesia. Neurobiology of disease, 2022, Volume: 166 Topics: Antiparkinson Agents; Corpus Striatum; Dyskinesias; Dystonia; Dystonic Disorders; Humans; Levodopa	2022
Dystonia, chorea, hemiballismus and other dyskinesias. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 2022, Volume: 140 Topics: Chorea; Dyskinesias; Dystonia; Dystonic Disorders; Humans; Levodopa	2022
Dystonia and levodopa-induced dyskinesias in Parkinson's disease: Is there a connection? Neurobiology of disease, 2019, Volume: 132 Topics: Animals; Antiparkinson Agents; Brain; Dyskinesia, Drug-Induced; Dystonic Disorders; Humans; Levodopa; Parkinson Disease	2019
Patient-reported responses to medical treatment in primary dystonia. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia, 2020, Volume: 75 Topics: Baclofen; Benzodiazepines; Dystonic Disorders; Female; Humans; Levodopa; Male; Medical Records; Patient Reported Outcome Measures; Treatment Outcome; Trihexyphenidyl	2020
Dopa-responsive dystonia caused by tyrosine hydroxylase deficiency: Three cases report and literature review. Medicine, 2020, Aug-14, Volume: 99, Issue:33 Topics: Benserazide; Child; Child, Preschool; Dopamine Agents; Dystonic Disorders; Humans; Levodopa; Male; Tyrosine 3-Monooxygenase	2020
Dopa-responsive dystonia, DRD-plus and DRD look-alike: a pragmatic review. Acta neurologica Belgica, 2021, Volume: 121, Issue:3 Topics: Alcohol Oxidoreductases; Biopterins; Dopamine; Dystonia; Dystonic Disorders; Humans; Levodopa	2021
Atypical presentation of dopa-responsive dystonia in Taiwan. Brain and behavior, 2018, Volume: 8, Issue:2 Topics: Adult; Age of Onset; Botulinum Toxins, Type A; Dopamine Agents; Drug Resistance; Dystonic Disorders; GTP Cyclohydrolase; Humans; Levodopa; Male; Mutation; Neuromuscular Agents; Parkinson Disease; Pedigree; Taiwan; Treatment Outcome	2018
Dystonia. Nature reviews. Disease primers, 2018, 09-20, Volume: 4, Issue:1 Topics: Baclofen; Basal Ganglia; Botulinum Toxins, Type A; Dopamine Agents; Dystonia; Dystonic Disorders; GABA-B Receptor Agonists; GTP Cyclohydrolase; Humans; Levodopa; Neuromuscular Agents; Quality of Life	2018
Dopa-responsive dystonia. Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 2018, 11-27, Volume: 138, Issue:19 Topics: Adolescent; Age of Onset; Child; Diagnostic Errors; Dopamine Agents; Dystonic Disorders; Humans; Levodopa	2018
Juvenile parkinsonism: Differential diagnosis, genetics, and treatment. Parkinsonism & related disorders, 2019, Volume: 67 Topics: Adolescent; alpha-Synuclein; Antiparkinson Agents; Child; Child, Preschool; Deep Brain Stimulation; Diagnosis, Differential; DiGeorge Syndrome; Dystonic Disorders; Genetic Diseases, X-Linked; Hepatolenticular Degeneration; Humans; Huntington Disease; Levodopa; Parkinsonian Disorders; Protein Deglycase DJ-1; Protein Kinases; Spinocerebellar Ataxias; Ubiquitin-Protein Ligases; Young Adult	2019
The Dystonias. Continuum (Minneapolis, Minn.), 2019, Volume: 25, Issue:4 Topics: Acetylcholine Release Inhibitors; Adult; Botulinum Toxins; Carbidopa; Dopamine Agonists; Drug Combinations; Dystonia; Dystonic Disorders; Female; Humans; Levodopa; Middle Aged; Physical Therapy Modalities	2019
[Treatment of childhood dystonia]. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 2010, Volume: 17, Issue:5 Topics: Algorithms; Anticonvulsants; Benzodiazepines; Botulinum Toxins, Type A; Child; Cholinergic Antagonists; Cooperative Behavior; Dantrolene; Deep Brain Stimulation; Dopamine Agents; Dystonic Disorders; Humans; Interdisciplinary Communication; Levodopa; Muscle Relaxants, Central; Patient Care Team; Prognosis	2010
Consensus paper: use of transcranial magnetic stimulation to probe motor cortex plasticity in dystonia and levodopa-induced dyskinesia. Brain stimulation, 2009, Volume: 2, Issue:2 Topics: Animals; Basal Ganglia; Dyskinesias; Dystonic Disorders; Hand; Humans; Levodopa; Models, Neurological; Motor Cortex; Neuronal Plasticity; Transcranial Magnetic Stimulation	2009
Deep brain stimulation in the treatment of dyskinesia and dystonia. Neurosurgical focus, 2004, Jul-15, Volume: 17, Issue:1 Topics: Dyskinesia, Drug-Induced; Dyskinesias; Dystonic Disorders; Electric Stimulation Therapy; Electrodes, Implanted; Globus Pallidus; Humans; Levodopa; Molecular Chaperones; Parkinson Disease; Stereotaxic Techniques; Subthalamic Nucleus; Treatment Outcome	2004
Segawa's disease: dopa-responsive dystonia. International journal of clinical practice, 2008, Volume: 62, Issue:6 Topics: Dopamine Agents; Dystonic Disorders; GTP Cyclohydrolase; Humans; Levodopa; Mutation	2008
Hereditary progressive dystonia with marked diurnal fluctuation. Brain & development, 2000, Volume: 22 Suppl 1 Topics: Animals; Brain; Dystonia; Dystonic Disorders; Humans; Levodopa; Neural Pathways; Tomography, Emission-Computed	2000

Trials

3 trial(s) available for levodopa and Adult-Onset Dystonias

Article	Year
Slowed Movement Stopping in Parkinson's Disease and Focal Dystonia is Improved by Standard Treatment. Scientific reports, 2019, 12-20, Volume: 9, Issue:1 Topics: Botulinum Toxins; Dystonic Disorders; Humans; Levodopa; Movement; Parkinson Disease	2019
Dystonia in Machado-Joseph disease: Clinical profile, therapy and anatomical basis. Parkinsonism & related disorders, 2015, Volume: 21, Issue:12 Topics: Adult; Ataxin-3; Atrophy; Botulinum Toxins, Type A; Brain; Diffusion Tensor Imaging; Dystonic Disorders; Female; Gray Matter; Humans; Levodopa; Machado-Joseph Disease; Magnetic Resonance Imaging; Male; Middle Aged; Motor Cortex; Repressor Proteins; Severity of Illness Index; Single-Blind Method; Thalamus; Trinucleotide Repeats; Videotape Recording; White Matter	2015
Neurology of Tourette's syndrome (TS) TS as a developmental dopamine disorder: a hypothesis. Brain & development, 2003, Volume: 25 Suppl 1 Topics: Adolescent; Adult; Age Factors; Brain; Child; Dopamine; Dose-Response Relationship, Drug; Dystonic Disorders; Female; Functional Laterality; Humans; Levodopa; Male; Neostriatum; Neural Pathways; Neurologic Examination; Neurons; Receptors, Dopamine; Substantia Nigra; Tourette Syndrome	2003

Other Studies

101 other study(ies) available for levodopa and Adult-Onset Dystonias

Article	Year
Dopaminergic and serotonergic alterations in plasma in three groups of dystonia patients. Parkinsonism & related disorders, 2021, Volume: 91 Topics: Adolescent; Adult; Aged; Aged, 80 and over; Case-Control Studies; Child; Dopamine; Dystonic Disorders; Female; Humans; Levodopa; Male; Middle Aged; Motor Activity; Serotonin; Torticollis; Young Adult	2021
Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes. Parkinsonism & related disorders, 2022, Volume: 94 Topics: Dystonic Disorders; GTP Cyclohydrolase; Humans; Levodopa; Retrospective Studies; Spain; Treatment Outcome	2022
A case of treatable encephalopathy, developmental regression, and proximal tremor. Parkinsonism & related disorders, 2021, Volume: 93 Topics: Brain Diseases; Developmental Disabilities; Dystonic Disorders; Humans; Infant; Levodopa; Male; Treatment Outcome; Tremor	2021
Recessive GCH1 Deficiency Causing DOPA-Responsive Dystonia Diagnosed by Reported Negative Exome. Pediatrics, 2022, 02-01, Volume: 149, Issue:2 Topics: Carbidopa; Child; Dopamine Agonists; Drug Combinations; Dystonic Disorders; Exome; Exome Sequencing; GTP Cyclohydrolase; Humans; Levodopa; Male	2022
Serotonergic system in vivo with [ Scientific reports, 2022, 04-15, Volume: 12, Issue:1 Topics: Dystonic Disorders; GTP Cyclohydrolase; Guanosine Triphosphate; Humans; Levodopa; Positron-Emission Tomography	2022
L-Dopa response, choreic dyskinesia, and dystonia in Perry syndrome. Parkinsonism & related disorders, 2022, Volume: 100 Topics: Antiparkinson Agents; Depression; Dyskinesia, Drug-Induced; Dystonia; Dystonic Disorders; Humans; Hypoventilation; Levodopa; Parkinson Disease; Parkinsonian Disorders	2022
Generalised dystonic presentation of CACNA1B-associated dystonia and its response to Levodopa. Acta neurologica Belgica, 2023, Volume: 123, Issue:4 Topics: Calcium Channels, N-Type; Dystonia; Dystonic Disorders; Humans; Levodopa	2023
Time estimation and arousal responses in dopa-responsive dystonia. Scientific reports, 2022, 08-22, Volume: 12, Issue:1 Topics: Arousal; Case-Control Studies; Dystonic Disorders; GTP Cyclohydrolase; Humans; Levodopa	2022
Neurodevelopmental disorder with dystonia due to SOX6 mutations. Molecular genetics & genomic medicine, 2022, Volume: 10, Issue:12 Topics: Dystonia; Dystonic Disorders; Facial Asymmetry; Humans; Levodopa; Musculoskeletal Abnormalities; Mutation; Neurodevelopmental Disorders; SOXD Transcription Factors; Tremor	2022
Pearls & Oy-sters: SCA21 Due to Neurology, 2022, Sep-20, Volume: 99, Issue:12 Topics: alpha-Fetoproteins; Dystonia; Dystonic Disorders; Humans; Levodopa; Membrane Proteins; Myoclonus; Spinocerebellar Degenerations	2022
Levodopa is effective in the treatment of three Chinese Tyrosine hydroxylase (TH) deficiency children. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 2019, Volume: 78 Topics: China; Dopamine Agents; Dystonic Disorders; Female; Humans; Infant; Levodopa; Male; Treatment Outcome	2019
Child Neurology: A young child with an undiagnosed case of dystonia responsive to l-dopa. Neurology, 2020, 02-18, Volume: 94, Issue:7 Topics: Anti-Dyskinesia Agents; Carbidopa; Child, Preschool; Diagnosis, Differential; Drug Combinations; Dystonic Disorders; Humans; Levodopa; Male	2020
Ataxia telangiectasia like disorder: Another dopa-responsive disorder look-alike? Parkinsonism & related disorders, 2020, Volume: 74 Topics: Adult; Ataxia Telangiectasia; Dopamine Agents; Dystonic Disorders; Female; Humans; Levodopa; Pedigree	2020
Orofacial dystonia and asssociated bulbar symptoms in multiple system atrophy: A blinded video analysis. Journal of the neurological sciences, 2020, 10-15, Volume: 417 Topics: Dystonia; Dystonic Disorders; Humans; Levodopa; Movement Disorders; Multiple System Atrophy	2020
[Anesthesia in patients with dopa-responsive dystonia (Segawa syndrome) : Presentation of the pathophysiology, clinical picture and approach based on two case reports]. Der Anaesthesist, 2021, Volume: 70, Issue:4 Topics: Anesthesia; Cesarean Section; Dystonic Disorders; Female; Humans; Levodopa; Pregnancy	2021
Teaching Video NeuroImage: Improvement in Motor Development After Start of Levodopa in Tyrosine Hydroxylase Deficiency. Neurology, 2021, 08-03, Volume: 97, Issue:5 Topics: Developmental Disabilities; Dopamine Agents; Dystonic Disorders; Exome; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Infant; Levodopa; Male; Mutation; Treatment Outcome	2021
Monozygotic twins with DYT-TOR1A showing jerking movements and levodopa responsiveness. Brain & development, 2021, Volume: 43, Issue:7 Topics: Adolescent; Carbidopa; Dopamine Agents; Drug Combinations; Dystonic Disorders; Humans; Levodopa; Male; Molecular Chaperones; Twins, Monozygotic	2021
Multimodal Longitudinal Neurophysiological Investigations in Dopa-Responsive Dystonia. Movement disorders : official journal of the Movement Disorder Society, 2021, Volume: 36, Issue:8 Topics: Dystonic Disorders; GTP Cyclohydrolase; Humans; Levodopa; Pedigree	2021
NR4A2 and Dystonia with Dopa Responsiveness. Movement disorders : official journal of the Movement Disorder Society, 2021, Volume: 36, Issue:9 Topics: Dystonia; Dystonic Disorders; Humans; Infant; Levodopa; Male; Nuclear Receptor Subfamily 4, Group A, Member 2	2021
A Case of GCH-1 Mutation Dopa-Responsive Dystonia Requiring High Doses of Levodopa for Treatment. Tremor and other hyperkinetic movements (New York, N.Y.), 2021, 06-24, Volume: 11 Topics: Adult; Dystonic Disorders; Female; GTP Cyclohydrolase; Humans; Levodopa; Mutation; Young Adult	2021
Dopa-responsive dystonia presenting with predominant hemifacial dystonia. Acta neurologica Belgica, 2017, Volume: 117, Issue:4 Topics: Dystonic Disorders; Female; Functional Laterality; GTP Cyclohydrolase; Humans; Levodopa; Magnetic Resonance Imaging; Mutation; Parkinson Disease; Positron-Emission Tomography; Tropanes; Young Adult	2017
Protein-redistribution diet in a case of tyrosine hydroxylase enzyme deficiency. Movement disorders : official journal of the Movement Disorder Society, 2017, Volume: 32, Issue:5 Topics: Adolescent; Brain; Diet; Dopamine Agents; Dystonic Disorders; Humans; Levodopa; Magnetic Resonance Imaging; Male	2017
Clinical pearls and scientific advancement: Reconciling tradition with new knowledge. Neurology, 2017, 05-09, Volume: 88, Issue:19 Topics: Dystonia; Dystonic Disorders; Humans; Knowledge; Levodopa	2017
An Indian Family with Tyrosine Hydroxylase Deficiency. Indian pediatrics, 2017, Jun-15, Volume: 54, Issue:6 Topics: Dopamine Agents; Dystonic Disorders; Female; Humans; India; Infant; Levodopa; Male; Tyrosine 3-Monooxygenase	2017
Parkinsonism without dopamine neuron degeneration in aged l-dopa-responsive dystonia knockin mice. Movement disorders : official journal of the Movement Disorder Society, 2017, Volume: 32, Issue:12 Topics: Aging; Analysis of Variance; Animals; Antiparkinson Agents; Dopamine Agents; Dopamine beta-Hydroxylase; Dopamine Plasma Membrane Transport Proteins; Dystonic Disorders; Female; Levodopa; Locomotion; Male; Mice; Mice, Inbred C57BL; Mice, Transgenic; Mutation; Parkinsonian Disorders; Tyrosine 3-Monooxygenase	2017
Reader response: l-Dopa in dystonia: A modern perspective. Neurology, 2018, 01-02, Volume: 90, Issue:1 Topics: Dystonia; Dystonic Disorders; Humans; Levodopa	2018
Author response: l-Dopa in dystonia: A modern perspective. Neurology, 2018, 01-02, Volume: 90, Issue:1 Topics: Dystonia; Dystonic Disorders; Humans; Levodopa	2018
A novel missense mutation of the GTP cyclohydrolase 1 gene in a Taiwanese family with dopa-responsive dystonia: A case report. Clinical neurology and neurosurgery, 2018, Volume: 165 Topics: Asian People; Dystonic Disorders; Female; Genotype; GTP Cyclohydrolase; Humans; Levodopa; Mutation, Missense; Pedigree; Treatment Outcome; Young Adult	2018
Rationale for dopa-responsive CTNNB1/ß-catenin deficient dystonia. Movement disorders : official journal of the Movement Disorder Society, 2018, Volume: 33, Issue:4 Topics: beta Catenin; Child, Preschool; Dopamine Agents; Dystonic Disorders; Female; Humans; Levodopa; Longitudinal Studies	2018
Motor fluctuations and levodopa-induced dyskinesias in dopa-responsive dystonia. Parkinsonism & related disorders, 2018, Volume: 50 Topics: Carbidopa; Dopamine Agonists; Drug Combinations; Dyskinesia, Drug-Induced; Dystonic Disorders; Female; GTP Cyclohydrolase; Humans; Levodopa; Middle Aged	2018
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, 2018, Jul-09, Volume: 33, Issue:28 Topics: Carrier Proteins; Dopamine; Dopamine Plasma Membrane Transport Proteins; Dystonic Disorders; Group VI Phospholipases A2; Humans; Levodopa; Mitochondrial Proteins; Molecular Chaperones; Parkinsonian Disorders; Proteins	2018
Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report. Medicine, 2018, Volume: 97, Issue:44 Topics: Asian People; Dystonic Disorders; Genetic Testing; Heterozygote; Humans; Infant; Levodopa; Male; Mutation; Tyrosine 3-Monooxygenase	2018
Diagnosing Unusual Presentations of Dopa-Responsive Conditions: Thinking on your Feet. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, 2019, Volume: 46, Issue:1 Topics: Aged; Dystonic Disorders; Female; Foot; GTP Cyclohydrolase; Humans; Levodopa; Magnetic Resonance Imaging; Male; Middle Aged; Mutation	2019
Dystonic crises in dopa-responsive dystonia induced by energy drinks. Practical neurology, 2019, Volume: 19, Issue:3 Topics: Dystonic Disorders; Energy Drinks; GTP Cyclohydrolase; Humans; Levodopa; Male; Treatment Outcome; Young Adult	2019
Residual signs of dopa-responsive dystonia with GCH1 mutation following levodopa treatment are uncommon in Korean patients. Parkinsonism & related disorders, 2019, Volume: 65 Topics: Adolescent; Adult; Child; Child, Preschool; Dopamine Agents; Dystonic Disorders; Female; GTP Cyclohydrolase; Humans; Levodopa; Male; Middle Aged; Parkinsonian Disorders; Republic of Korea; Young Adult	2019
Levodopa-induced dyskinesias in the absence of nigrostriatal degeneration. Movement disorders : official journal of the Movement Disorder Society, 2013, Volume: 28, Issue:8 Topics: Dopamine Agents; Dyskinesia, Drug-Induced; Dystonic Disorders; Humans; Levodopa	2013
Novel GCH-1 mutations and unusual long-lasting dyskinesias in Korean families with dopa-responsive dystonia. Parkinsonism & related disorders, 2013, Volume: 19, Issue:12 Topics: Adolescent; Adult; Age of Onset; Asian People; Child; Child, Preschool; Dopamine Agents; Dyskinesias; Dystonic Disorders; Family; Female; GTP Cyclohydrolase; Humans; Infant; Levodopa; Male; Middle Aged; Mutation; Pedigree; Phenylketonurias; Young Adult	2013
Oculogyric crises induced by levodopa in PLA2G6 parkinsonism-dystonia. Parkinsonism & related disorders, 2014, Volume: 20, Issue:2 Topics: Adolescent; Adult; Age of Onset; Antiparkinson Agents; Dystonic Disorders; Female; Group VI Phospholipases A2; Humans; Levodopa; Male; Ocular Motility Disorders; Parkinson Disease; Siblings; Young Adult	2014
Paroxysmal exercise-induced dystonia due to GLUT1 mutation can be responsive to levodopa: a case report. Journal of neurology, 2014, Volume: 261, Issue:3 Topics: Dystonic Disorders; Glucose Transporter Type 1; Humans; Levodopa; Male; Middle Aged; Mutation; Treatment Outcome	2014
GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia. Journal of neurology, 2014, Volume: 261, Issue:3 Topics: Adult; Carbidopa; Codon, Nonsense; Dopamine Agonists; Drug Combinations; Dystonic Disorders; Exome; Female; GTP Cyclohydrolase; Heterozygote; Humans; Levodopa; Phenotype; Sequence Analysis, DNA; Spastic Paraplegia, Hereditary; Treatment Outcome	2014
Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene. Acta neurologica Scandinavica. Supplementum, 2014, Issue:198 Topics: Adolescent; Alcohol Oxidoreductases; Child; Dystonic Disorders; Female; Genetic Predisposition to Disease; Humans; Levodopa; Mutation; Pedigree; Pterins	2014
Growth hormone deficiency in a dopa-responsive dystonia patient with a novel mutation of guanosine triphosphate cyclohydrolase 1 gene. Journal of child neurology, 2015, Volume: 30, Issue:6 Topics: Adolescent; Dystonic Disorders; Growth Hormone; GTP Cyclohydrolase; Humans; Levodopa; Male; Mutation; Treatment Outcome	2015
A novel missense mutation in GCH1 gene in a Korean family with Segawa disease. Brain & development, 2015, Volume: 37, Issue:3 Topics: Adolescent; Dopamine Agents; Dystonic Disorders; Exons; Fathers; GTP Cyclohydrolase; Humans; Levodopa; Male; Mutation, Missense	2015
[Tyrosine hydroxylase deficiency: a case of autosomal recessive dopa-responsive dystonia]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2014, Volume: 52, Issue:8 Topics: Brain; Catecholamines; Child, Preschool; DNA; DNA Mutational Analysis; Dopamine Agents; Dystonic Disorders; Homozygote; Humans; Hypokinesia; Levodopa; Male; Muscle Rigidity; Mutation, Missense; Polymerase Chain Reaction; Tyrosine 3-Monooxygenase	2014
Dopa-Responsive Dystonia and gait analysis: A case study of levodopa therapeutic effects. Brain & development, 2015, Volume: 37, Issue:6 Topics: Adult; Biomechanical Phenomena; Dystonic Disorders; Female; Gait; Humans; Levodopa; Posture; Treatment Outcome; Young Adult	2015
Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency. Molecular genetics and metabolism, 2015, Volume: 114, Issue:1 Topics: Adolescent; Adult; Biomarkers; Child; Child, Preschool; Dopamine Plasma Membrane Transport Proteins; Dystonic Disorders; Female; Gene Expression; Humans; Infant, Newborn; Levodopa; Male; Phenotype; Receptors, Dopamine D2; Tyrosine 3-Monooxygenase; Vesicular Monoamine Transport Proteins; Young Adult	2015
[Levodopa-responsive dystonia: Segawa's disease. Report of a case with late onset]. Revista de neurologia, 2014, Dec-16, Volume: 59, Issue:12 Topics: Adult; Age of Onset; Botulinum Toxins, Type A; Carbidopa; Consanguinity; Drug Resistance; Drug Therapy, Combination; Dystonic Disorders; Female; Genetic Counseling; GTP Cyclohydrolase; Humans; Levodopa	2014
Medication use in childhood dystonia. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2016, Volume: 20, Issue:4 Topics: Adolescent; Antiparkinson Agents; Baclofen; Child; Chloral Hydrate; Cohort Studies; Diazepam; Drug-Related Side Effects and Adverse Reactions; Dystonia; Dystonic Disorders; Female; Humans; Hypnotics and Sedatives; Levodopa; Logistic Models; Male; Muscle Relaxants, Central; Risk Factors; Trihexyphenidyl	2016
Delayed Diagnosis of Dopa responsive Dystonia in Two Siblings. Indian pediatrics, 2016, May-08, Volume: 53, Issue:5 Topics: Child, Preschool; Delayed Diagnosis; Diagnosis, Differential; Dopamine Agents; Dystonic Disorders; Female; Humans; Levodopa; Paraplegia; Siblings	2016
Classification of dopa-responsive dystonia - a patient's perspective. Nature reviews. Neurology, 2016, Volume: 12, Issue:7 Topics: Dystonia; Dystonic Disorders; Humans; Levodopa	2016
Transcranial sonography in dopa-responsive dystonia. European journal of neurology, 2017, Volume: 24, Issue:1 Topics: Adult; Aged; Brain; Dystonic Disorders; Female; GTP Cyclohydrolase; Humans; Levodopa; Male; Middle Aged; Substantia Nigra; Ultrasonography, Doppler, Transcranial	2017
Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome. Movement disorders : official journal of the Movement Disorder Society, 2017, Volume: 32, Issue:3 Topics: Antiparkinson Agents; Corpus Striatum; Dystonic Disorders; Humans; Levodopa; Male; Mutation; Nerve Tissue Proteins; Parkinsonian Disorders; Pedigree; Phosphoric Monoester Hydrolases; Tomography, Emission-Computed, Single-Photon	2017
Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency type B. Neurology, 2017, 01-31, Volume: 88, Issue:5 Topics: Adolescent; Cognitive Dysfunction; Dopamine Agents; Dystonic Disorders; Early Diagnosis; Humans; Levodopa; Male; Motor Skills Disorders; Treatment Outcome	2017
Predisposition of genetic disease by modestly decreased expression of GCH1 mutant allele. Experimental & molecular medicine, 2008, Jun-30, Volume: 40, Issue:3 Topics: Child; Clubfoot; Dopamine; Dystonic Disorders; Genes, Recessive; Genetic Predisposition to Disease; GTP Cyclohydrolase; Humans; Levodopa; Male; Mutation, Missense; Pedigree; Polymorphism, Genetic	2008
Segawa disease with a novel heterozygous mutation in exon 5 of the GCH-1 gene (E183K). Brain & development, 2009, Volume: 31, Issue:2 Topics: Base Sequence; Biopterins; Child; Dystonia; Dystonic Disorders; Exons; Female; GTP Cyclohydrolase; Heterozygote; Humans; Levodopa; Male; Mutation, Missense; Neopterin; Pedigree; Sequence Analysis, DNA	2009
Differential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia. Proceedings of the National Academy of Sciences of the United States of America, 2008, Aug-26, Volume: 105, Issue:34 Topics: Age Factors; Animals; Corpus Striatum; Disease Models, Animal; Dopamine; Dystonic Disorders; Humans; Levodopa; Metabolic Networks and Pathways; Mice; Mice, Transgenic; Motor Skills Disorders; Phosphorus-Oxygen Lyases; Tyrosine 3-Monooxygenase	2008
Mutation in intron 5 of GTP cyclohydrolase 1 gene causes dopa-responsive dystonia (Segawa syndrome) in a Brazilian family. Genetics and molecular research : GMR, 2008, Aug-05, Volume: 7, Issue:3 Topics: Adolescent; Brazil; DNA Mutational Analysis; Dystonic Disorders; Female; GTP Cyclohydrolase; Humans; Introns; Levodopa; Male; Mutation; Pedigree; Penetrance	2008
Levodopa/carbidopa/entacapone-induced acute Pisa syndrome in a Parkinson's disease patient. Journal of the neurological sciences, 2008, Dec-15, Volume: 275, Issue:1-2 Topics: Antiparkinson Agents; Carbidopa; Catechols; Dystonic Disorders; Humans; Levodopa; Male; Middle Aged; Nitriles; Parkinson Disease; Tomography, Emission-Computed, Single-Photon; Tropanes	2008
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain : a journal of neurology, 2009, Volume: 132, Issue:Pt 7 Topics: Adolescent; Adult; Age of Onset; Alcohol Oxidoreductases; Biopterins; Child; Child, Preschool; Dopamine; Dopamine Agents; Dystonic Disorders; Female; GTP Cyclohydrolase; Heterozygote; Humans; Levodopa; Male; Middle Aged; Point Mutation; Tyrosine 3-Monooxygenase; Ubiquitin-Protein Ligases; Young Adult	2009
A case of secondary dystonia responding to levodopa. Journal of child neurology, 2010, Volume: 25, Issue:6 Topics: Basal Ganglia; Child; Child, Preschool; Dopamine Agents; Dystonic Disorders; Female; Humans; Levodopa; Neurologic Examination; Treatment Outcome	2010
Marked improvement in Segawa syndrome after L-dopa and selegiline treatment. Pediatric neurology, 2010, Volume: 42, Issue:5 Topics: Child, Preschool; Diseases in Twins; Drug Therapy, Combination; Dystonic Disorders; Humans; Infant; Levodopa; Male; Pedigree; Selegiline; Syndrome; Treatment Outcome; Tyrosine 3-Monooxygenase	2010
Decades of delayed diagnosis in 4 levodopa-responsive young-onset monogenetic parkinsonism patients. Movement disorders : official journal of the Movement Disorder Society, 2011, Volume: 26, Issue:7 Topics: Adult; Age of Onset; Antiparkinson Agents; Delayed Diagnosis; Diagnosis, Differential; Dystonic Disorders; Fatigue Syndrome, Chronic; Female; Gait Disorders, Neurologic; Humans; Levodopa; Parkinsonian Disorders; Time Factors; Ubiquitin-Protein Ligases; Young Adult	2011
Whole-genome sequencing for optimized patient management. Science translational medicine, 2011, Jun-15, Volume: 3, Issue:87 Topics: Adolescent; Decision Making; Dystonic Disorders; Female; Genome, Human; Humans; Levodopa; Male; Patient Care; Pedigree; Sequence Analysis, DNA; Treatment Outcome; Twins, Dizygotic	2011
A case of parkinsonism and dopa-induced severe dyskinesia associated with novel mutation in the GTP cyclohydrolase I gene. Parkinsonism & related disorders, 2011, Volume: 17, Issue:10 Topics: Adult; Aged; Base Sequence; Dopamine Agonists; Dyskinesia, Drug-Induced; Dystonic Disorders; Female; GTP Cyclohydrolase; Humans; Levodopa; Male; Mutation; Parkinsonian Disorders; Pedigree	2011
A new mutation of GCH1 in triplets family with dopa-responsive dystonia. European journal of neurology, 2011, Volume: 18, Issue:9 Topics: Adult; DNA Mutational Analysis; Dopamine Agents; Dystonic Disorders; Family; Female; Frameshift Mutation; GTP Cyclohydrolase; Humans; Levodopa; Pedigree; Polymerase Chain Reaction; Triplets	2011
Parkinsonism and dropped head: dystonia, myopathy or both? Parkinsonism & related disorders, 2012, Volume: 18, Issue:1 Topics: Aged; Carbidopa; Drug Combinations; Dystonic Disorders; Electromyography; Female; Head Movements; Humans; Levodopa; Male; Middle Aged; Multiple System Atrophy; Muscular Diseases; Parkinsonian Disorders; Retrospective Studies	2012
Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy. Journal of Korean medical science, 2011, Volume: 26, Issue:9 Topics: Adult; Cerebral Palsy; Codon, Initiator; Diagnosis, Differential; Dystonic Disorders; Female; GTP Cyclohydrolase; Humans; Levodopa; Mutation; Sequence Analysis, DNA	2011
Are Dopa-responsive dystonia and Parkinson's disease related disorders? A case report. Parkinsonism & related disorders, 2012, Volume: 18, Issue:5 Topics: Aged; Antiparkinson Agents; Corpus Striatum; Dystonic Disorders; Female; GTP Cyclohydrolase; Humans; Levodopa; Parkinson Disease; Tomography, Emission-Computed, Single-Photon; Tropanes	2012
Tyrosine hydroxylase deficiency in Taiwanese infants. Pediatric neurology, 2012, Volume: 46, Issue:2 Topics: Child; Child, Preschool; Codon, Nonsense; Dystonic Disorders; Female; Humans; Infant; Levodopa; Male; Mutation, Missense; Neurologic Examination; Selegiline; Tyrosine 3-Monooxygenase	2012
Good obstetric outcome in a patient with Segawa disease. Arquivos de neuro-psiquiatria, 2012, Volume: 70, Issue:7 Topics: Dopamine Agents; Dystonic Disorders; Female; Humans; Infant, Newborn; Levodopa; Pregnancy; Pregnancy Complications; Pregnancy Outcome	2012
DYT16: the original cases. Journal of neurology, neurosurgery, and psychiatry, 2012, Volume: 83, Issue:10 Topics: Adolescent; Adult; Age of Onset; Anti-Dyskinesia Agents; Antiparkinson Agents; Baclofen; Biperiden; Botulinum Toxins; Carbidopa; Child; Child, Preschool; Cholinergic Antagonists; Drug Combinations; Drug Resistance; Dystonia; Dystonic Disorders; Female; Humans; Levodopa; Male; Middle Aged; Muscle Relaxants, Central; Mutation; Parkinsonian Disorders; Pedigree; Phenotype; RNA-Binding Proteins; Speech Disorders; Trihexyphenidyl; Young Adult	2012
New algorithm for the diagnosis of hereditary dystonia. Arquivos de neuro-psiquiatria, 2012, Volume: 70, Issue:9 Topics: Algorithms; Antiparkinson Agents; Dystonic Disorders; Genetic Testing; Humans; Levodopa; Parkinsonian Disorders	2012
Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia. Molecular genetics and metabolism, 2013, Volume: 108, Issue:3 Topics: Administration, Oral; Adult; Biopterins; Diagnosis, Differential; Dystonia; Dystonic Disorders; Female; Humans; Levodopa; Metabolism, Inborn Errors; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Psychomotor Disorders; Tyrosine	2013
Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency. Movement disorders : official journal of the Movement Disorder Society, 2013, Volume: 28, Issue:8 Topics: Child; Child, Preschool; Dopamine Agents; Dyskinesia, Drug-Induced; Dystonic Disorders; Humans; Infant; Levodopa	2013
VMAT2 binding is elevated in dopa-responsive dystonia: visualizing empty vesicles by PET. Synapse (New York, N.Y.), 2003, Volume: 49, Issue:1 Topics: Adolescent; Adult; Carbon Radioisotopes; Corpus Striatum; Cytoplasmic Vesicles; Dopamine; Dopamine Agents; Dystonic Disorders; Female; Fluorine Radioisotopes; Humans; Levodopa; Male; Membrane Glycoproteins; Membrane Transport Proteins; Methylphenidate; Middle Aged; Neuropeptides; Parkinson Disease; Raclopride; Tetrabenazine; Tomography, Emission-Computed; Vesicular Biogenic Amine Transport Proteins; Vesicular Monoamine Transport Proteins	2003
Basal ganglia neuronal discharge in primary and secondary dystonia. Advances in neurology, 2004, Volume: 94 Topics: Action Potentials; Adolescent; Adult; Aged; Carrier Proteins; Child; Dystonic Disorders; Electric Stimulation; Electrophysiology; Female; Globus Pallidus; Humans; Levodopa; Magnetic Resonance Imaging; Male; Middle Aged; Molecular Chaperones; Neurons; Parkinsonian Disorders; Putamen; Treatment Outcome	2004
Variability of clinical expression and evolution of spinal deformity in a family with late detection of dopa-responsive dystonia. Developmental medicine and child neurology, 2004, Volume: 46, Issue:2 Topics: Adolescent; Age of Onset; Child; Child, Preschool; Dopamine Agents; Dystonic Disorders; Female; Humans; Levodopa; Male; Pedigree; Phenotype; Prognosis; Retrospective Studies; Scoliosis	2004
Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease. Movement disorders : official journal of the Movement Disorder Society, 2004, Volume: 19, Issue:2 Topics: Aged; Antiparkinson Agents; Carbidopa; Disease Progression; DNA Mutational Analysis; Drug Combinations; Dystonic Disorders; Exercise; Female; Genotype; Humans; Levodopa; Male; Middle Aged; Neurologic Examination; Parkinsonian Disorders; Phenotype; Semen; Ubiquitin-Protein Ligases; Videotape Recording	2004
Dramatic levodopa responsiveness of dystonia in a sporadic case of spinocerebellar ataxia type 3. Postgraduate medical journal, 2004, Volume: 80, Issue:944 Topics: Adult; Antiparkinson Agents; Dystonic Disorders; Humans; Levodopa; Machado-Joseph Disease; Magnetic Resonance Imaging; Male	2004
Subthalamic deep brain stimulation masking possible malignant syndrome in Parkinson disease. Neurology, 2004, Aug-10, Volume: 63, Issue:3 Topics: Analgesics, Non-Narcotic; Anti-Infective Agents; Antiparkinson Agents; Combined Modality Therapy; Consciousness Disorders; Dantrolene; Deep Brain Stimulation; Diagnosis, Differential; Diagnostic Errors; Dystonic Disorders; Encephalitis; Female; Fluid Therapy; Foot; Humans; Levodopa; Malignant Hyperthermia; Middle Aged; Muscle Relaxants, Central; Parkinson Disease; Selegiline; Substance Withdrawal Syndrome; Tachycardia	2004
'Pyruvate dehydrogenase deficiency presenting as dystonia and responding to levodopa'. Developmental medicine and child neurology, 2005, Volume: 47, Issue:7 Topics: Antiparkinson Agents; Child; Child, Preschool; Dystonic Disorders; Electroencephalography; Electromyography; Evoked Potentials, Somatosensory; Humans; Levodopa; Magnetic Resonance Imaging; Male; Neural Conduction; Pyruvate Dehydrogenase (Lipoamide); Siblings	2005
[Clinical analysis of 15 cases of Dopa-responsive dystonia]. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2004, Volume: 29, Issue:6 Topics: Adolescent; Adult; Child; Child, Preschool; Diagnosis, Differential; Dystonic Disorders; Female; Humans; Levodopa; Male; Middle Aged; Motor Activity; Parkinson Disease	2004
Oculogyric dystonic states in early-onset parkinsonism with basal ganglia calcifications. Neurology, 2005, Sep-13, Volume: 65, Issue:5 Topics: Age of Onset; Antiparkinson Agents; Apomorphine; Basal Ganglia; Calcinosis; Dyskinesia, Drug-Induced; Dystonic Disorders; Female; Humans; Levodopa; Middle Aged; Ocular Motility Disorders; Oculomotor Muscles; Parkinsonian Disorders	2005
A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene. Clinical neurology and neurosurgery, 2006, Volume: 108, Issue:8 Topics: Biopterins; Chromosome Aberrations; DNA Mutational Analysis; Dopamine Agents; Dystonic Disorders; Female; Genes, Dominant; GTP Cyclohydrolase; Humans; Levodopa; Middle Aged; Mutation; Neopterin; Neurologic Examination; Pedigree; Polymerase Chain Reaction	2006
[Dopa-responsive dystonia: clinical, genetic, and biochemical studies]. Rinsho shinkeigaku = Clinical neurology, 2006, Volume: 46, Issue:1 Topics: Biopterins; Child; Chromosomes, Human, Pair 14; Dystonic Disorders; GTP Cyclohydrolase; Humans; Levodopa; Tyrosine 3-Monooxygenase	2006
Motor system inhibition in dopa-responsive dystonia and its modulation by treatment. Neurology, 2006, Apr-11, Volume: 66, Issue:7 Topics: Blinking; Dystonic Disorders; Electric Stimulation; GTP Cyclohydrolase; H-Reflex; Humans; Levodopa; Median Nerve; Motor Activity; Mutation	2006
Dopa-responsive dystonia (Segawa syndrome). Indian pediatrics, 2006, Volume: 43, Issue:7 Topics: Cerebral Palsy; Child; Diagnostic Errors; Dopamine Agents; Dystonic Disorders; Humans; Levodopa; Male; Quadriplegia; Syndrome; Treatment Outcome	2006
Broadening the phenotype of childhood-onset dopa-responsive dystonia. Archives of neurology, 2006, Volume: 63, Issue:8 Topics: Dystonic Disorders; Female; Humans; Levodopa; Middle Aged; Pedigree; Phenotype; Time Factors	2006
Case records of the Massachusetts General Hospital. Case 26-2006. A 19-year-old woman with difficulty walking. The New England journal of medicine, 2006, Aug-24, Volume: 355, Issue:8 Topics: Adult; Diagnosis, Differential; Dystonia; Dystonic Disorders; Female; Gait Disorders, Neurologic; GTP Cyclohydrolase; Humans; Levodopa; Movement Disorders	2006
[Dopa-responsive dystonia (Segawa syndrome) with secondary skeleton deformity]. Wiadomosci lekarskie (Warsaw, Poland : 1960), 2006, Volume: 59, Issue:9-10 Topics: Adult; Bone and Bones; Child; Dopamine Agonists; Dystonic Disorders; Female; GTP Cyclohydrolase; Humans; Levodopa; Musculoskeletal Abnormalities; Tyrosine 3-Monooxygenase	2006
Intracortical inhibition of the motor cortex in Segawa disease (DYT5). Neurology, 2007, Mar-27, Volume: 68, Issue:13 Topics: Adult; Basal Ganglia; Biopterins; Brain Diseases, Metabolic; Diagnosis, Differential; Dopamine; Dopamine Agents; Dystonic Disorders; Evoked Potentials, Motor; Female; gamma-Aminobutyric Acid; GTP Cyclohydrolase; Humans; Interneurons; Levodopa; Male; Middle Aged; Motor Cortex; Muscle, Skeletal; Neural Inhibition; Neural Pathways; Phenotype; Transcranial Magnetic Stimulation	2007
Dystonia during feeding as an early sign of dopa-responsive dystonia. Pediatric neurology, 2007, Volume: 37, Issue:3 Topics: Dopamine Agents; Dystonic Disorders; Eating; Female; Gastroesophageal Reflux; Humans; Infant; Levodopa	2007
Frequency of GCH1 deletions in Dopa-responsive dystonia. Journal of neurology, neurosurgery, and psychiatry, 2008, Volume: 79, Issue:2 Topics: Adolescent; Adult; Antiparkinson Agents; Child; Child, Preschool; Chromosome Aberrations; Chromosome Deletion; Cohort Studies; DNA Mutational Analysis; Dystonic Disorders; Female; Gene Frequency; Genes, Dominant; GTP Cyclohydrolase; Humans; Infant; Levodopa; Male; Microsatellite Repeats; Penetrance; Point Mutation; Sequence Analysis, Protein	2008
Dopa-responsive dystonia presenting as delayed and awkward gait. Pediatric neurology, 2008, Volume: 38, Issue:4 Topics: Carbidopa; Child, Preschool; Dopamine Agonists; Drug Combinations; Dystonic Disorders; Gait Disorders, Neurologic; GTP Cyclohydrolase; Humans; Levodopa; Male; Mutation; Pedigree	2008
Response to levodopa treatment in dopa-responsive dystonia. Archives of neurology, 2001, Volume: 58, Issue:6 Topics: Adult; Antiparkinson Agents; Dopamine; Dystonia; Dystonic Disorders; Female; Humans; Levodopa; Male; Middle Aged; Parkinsonian Disorders; Pilot Projects	2001
Focal myopathy as a cause of anterocollis in Parkinsonism. Movement disorders : official journal of the Movement Disorder Society, 2001, Volume: 16, Issue:4 Topics: Aged; Biopsy; Diagnosis, Differential; Dystonic Disorders; Female; Humans; Levodopa; Multiple System Atrophy; Neck Muscles; Neurologic Examination; Parkinson Disease	2001
Early morning off-medication dyskinesias, dystonia, and choreic subtypes. Archives of neurology, 2001, Volume: 58, Issue:9 Topics: Adult; Aged; Antiparkinson Agents; Brain Tissue Transplantation; Chorea; Dyskinesia, Drug-Induced; Dystonic Disorders; Female; Fetal Tissue Transplantation; Globus Pallidus; Humans; Incidence; Levodopa; Male; Middle Aged; Parkinson Disease	2001
Dopa-responsive dystonia. Indian pediatrics, 2001, Volume: 38, Issue:9 Topics: Child; Dose-Response Relationship, Drug; Drug Administration Schedule; Dystonic Disorders; Female; Gait; Humans; Levodopa; Neurologic Examination	2001
Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness. Neurology, 2001, Sep-25, Volume: 57, Issue:6 Topics: Carbidopa; Child; Chromosome Aberrations; Chromosome Disorders; Circadian Rhythm; Drug Combinations; Dystonic Disorders; Gait; Genes, Dominant; GTP Cyclohydrolase; Humans; Levodopa; Male; Muscle Hypotonia; Muscle Weakness; Neurologic Examination; Point Mutation; Treatment Outcome	2001
X-linked dystonia ("Lubag") presenting predominantly with parkinsonism: a more benign phenotype? Movement disorders : official journal of the Movement Disorder Society, 2002, Volume: 17, Issue:1 Topics: Adult; Antiparkinson Agents; Chromosome Aberrations; Dystonic Disorders; Humans; Levodopa; Male; Parkinsonian Disorders; Phenotype; X Chromosome	2002
[Dopa-responsive dystonia--a hereditary dystonia easy to treat]. Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 2002, Feb-10, Volume: 122, Issue:4 Topics: Adolescent; Adult; Antiparkinson Agents; Child; Diagnosis, Differential; Dopamine Agents; Dystonic Disorders; Female; Gait Disorders, Neurologic; GTP Cyclohydrolase; Humans; Levodopa; Male; Middle Aged; Pedigree	2002