dihydroxyphenylalanine has been researched along with Dystonia in 66 studies
Dihydroxyphenylalanine: A beta-hydroxylated derivative of phenylalanine. The D-form of dihydroxyphenylalanine has less physiologic activity than the L-form and is commonly used experimentally to determine whether the pharmacological effects of LEVODOPA are stereospecific.
dopa : A hydroxyphenylalanine carrying hydroxy substituents at positions 3 and 4 of the benzene ring.
Dystonia: An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)
| Excerpt | Relevance | Reference |
|---|---|---|
| "We report the long-term response to levodopa in 20 patients with dopa-responsive dystonia (DRD)." | 7.71 | The long-term response to levodopa in dopa-responsive dystonia. ( Calne, DB; de la Fuente-Fernández, R; Hwang, WJ; Tsui, JK, 2001) |
| " Her elder sister had been suffering from childhood-onset dystonia-parkinsonism with diurnal fluctuation which initially responded well to levodopa therapy, but later larger dose of levodopa was needed because of severe treatment-related fluctuation of the clinical symptoms." | 7.69 | [A case of familial juvenile dystonia-parkinsonism: 18F-6-fluorodopa and 18F-fluoro-2-deoxyglucose PET study]. ( Akiguchi, I; Fukuyama, H; Hanakawa, T; Kato, M; Kimura, J; Shibasaki, H, 1996) |
| "To determine if there is abnormal phenylalanine and biopterin metabolism in patients with dopa-responsive dystonia (DRD), we measured plasma levels of phenylalanine, tyrosine, biopterin, and neopterin at baseline, and 1, 2, 4, and 6 hours after an oral phenylalanine load (100 mg/kg)." | 7.69 | Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test. ( Arnold, LA; Bebin, EM; Fryburg, JS; Gunasekera, RS; Hyland, K; Jacobson, RD; Rost-Ruffner, E; Trugman, JM; Wilson, WG, 1997) |
| "Dystonia was severe and did not resolve with time in patients with lesions involving the nigrostriatal pathway, and the degree of dopaminergic denervation revealed by positron emission tomography was correlated with the severity of dystonia." | 5.30 | Dopaminergic dysfunction in midbrain dystonia: anatomoclinical study using 3-dimensional magnetic resonance imaging and fluorodopa F 18 positron emission tomography. ( Agid, Y; Dormont, D; Dupel, C; Jedynak, P; Lehéricy, S; Marsault, C; Remy, P; Samson, Y; Serdaru, M; Veber, H; Vidailhet, M, 1999) |
| "We report the long-term response to levodopa in 20 patients with dopa-responsive dystonia (DRD)." | 3.71 | The long-term response to levodopa in dopa-responsive dystonia. ( Calne, DB; de la Fuente-Fernández, R; Hwang, WJ; Tsui, JK, 2001) |
| "We have studied dopamine D2 receptor binding by [11C]raclopride positron emission tomography in 14 patients with dopa-responsive dystonia (DRD)." | 3.70 | D2 receptor binding in dopa-responsive dystonia. ( Antonini, A; Künig, G; Leenders, KL; Meinck, HM; Vontobel, P; Weindl, A, 1998) |
| " Her elder sister had been suffering from childhood-onset dystonia-parkinsonism with diurnal fluctuation which initially responded well to levodopa therapy, but later larger dose of levodopa was needed because of severe treatment-related fluctuation of the clinical symptoms." | 3.69 | [A case of familial juvenile dystonia-parkinsonism: 18F-6-fluorodopa and 18F-fluoro-2-deoxyglucose PET study]. ( Akiguchi, I; Fukuyama, H; Hanakawa, T; Kato, M; Kimura, J; Shibasaki, H, 1996) |
| "To determine if there is abnormal phenylalanine and biopterin metabolism in patients with dopa-responsive dystonia (DRD), we measured plasma levels of phenylalanine, tyrosine, biopterin, and neopterin at baseline, and 1, 2, 4, and 6 hours after an oral phenylalanine load (100 mg/kg)." | 3.69 | Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test. ( Arnold, LA; Bebin, EM; Fryburg, JS; Gunasekera, RS; Hyland, K; Jacobson, RD; Rost-Ruffner, E; Trugman, JM; Wilson, WG, 1997) |
| "A young girl with hereditary progressive dystonia with diurnal fluctuation or Segawa's syndrome, completely handicapped and confined to a wheelchair between the age of 5 and 9, revealed an unusually slow response to levodopa." | 3.68 | Hereditary progressive dystonia with diurnal fluctuation (Segawa's syndrome)--an unusual case. ( Kaiser, R; Ziegler, G, 1992) |
| "Striatal 18F-Dopa uptake and glucose metabolism were studied by positron emission tomography with 6-L-[18F]fluorodopa and [18F]fluorodeoxyglucose, respectively, in 8 patients with idiopathic dystonia." | 3.68 | Increased striatal 18F-dopa uptake and normal glucose metabolism in idiopathic dystonia syndrome. ( Fukumura, T; Goto, I; Ichiya, Y; Kato, M; Kuwabara, Y; Masuda, K; Otsuka, M; Sasaki, M; Shima, F, 1992) |
| "Dopa-responsive dystonia (DRD) is an eminently treatable condition and its recognition is therefore of crucial importance." | 2.41 | Dopa-responsive dystonia -- the story so far. ( Bandmann, O; Wood, NW, 2002) |
| "In dopa responsive dystonia, the finding of normal fluorodopa PET led to the prediction that the lesion would be functional rather than anatomical; this has been confirmed by the identification of a defect in dopamine synthesis in this disorder." | 2.40 | Contributions of positron emission tomography to elucidating the pathogenesis of idiopathic parkinsonism and dopa responsive dystonia. ( Calne, DB; de la Fuente-Fernández, R; Kishore, A, 1997) |
| "Many different disorders have dystonia as the only or primary sign." | 2.40 | Dystonia. ( Bressman, SB, 1998) |
| " We retrospectively analyzed data from 17 stable HP rhesus monkeys treated long-term with chronic intermittent dosing of levodopa (LD) in an attempt to induce choreoathetoid and dystonic dyskinesias." | 1.37 | Dyskinesias do not develop after chronic intermittent levodopa therapy in clinically hemiparkinsonian rhesus monkeys. ( Bakay, RA; Deogaonkar, M; Lieu, CA; Subramanian, T, 2011) |
| " By dosage analysis, we were able to detect a mutation in all patients." | 1.36 | High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia. ( Chang, HC; Chen, RS; Huang, CC; Huang, CL; Lai, SC; Lin, JJ; Lu, CS; Wang, CY; Weng, YH; Wu-Chou, YH; Yeh, TH, 2010) |
| "Dopa responsive dystonia results from abnormalities in the dopamine synthesis pathway which produces an array of phenotypic presentations with equally numerous genotypes." | 1.36 | Two in the hand, an essential lesson in tremor management. ( Archibald, N; Burn, D; Gallagher, P; Goldsmith, P, 2010) |
| "The Segawa syndrome is an autosomal dominant form of guanosine triphosphate cyclohydrolase deficiency, resulting in decreased dopamine and serotonin levels, typically presenting as a dopa-responsive dystonia." | 1.35 | Uneventful electroconvulsive therapy in a patient with dopa-responsive dystonia (Segawa syndrome). ( Peuskens, J; Rooseleer, J; Sienaert, P, 2009) |
| "Dopa-responsive dystonia (DRD) is a clinical syndrome characterized by childhood-onset dystonia and a dramatic and sustained response to relatively low doses of levodopa." | 1.33 | [Dopa-responsive dystonia]. ( Furukawa, Y, 2006) |
| "Strategies in treatment of movement disorders are discussed with the illustration of three patients with dystonia." | 1.33 | Treatment strategies in movement disorders. ( Speelman, JD, 2005) |
| "Most cases of dopa-responsive dystonia (DRD) are thought to be caused by mutations in the GCHI gene; however, by sequencing, mutations are found in only 40% to 60%." | 1.31 | Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia. ( Aysun, S; Demir, E; Gucuyener, K; Hagenah, J; Hedrich, K; Kabakçi, K; Klein, C; Landt, O; Mohrmann, K; Ozelius, LJ; Pramstaller, PP; Schwinger, E; Wiegers, K, 2002) |
| "These results suggest that hemidystonia is associated with a disturbance of the dopamine system." | 1.31 | Putaminal necrosis presenting with hemidystonia. ( Imahori, Y; Kawano, H; Misawa, A; Sawada, T; Takeuchi, Y, 2000) |
| "strictly defined dopa-responsive dystonia." | 1.31 | Gene mutation in hereditary progressive dystonia with marked diurnal fluctuation (HPD), strictly defined dopa-responsive dystonia. ( Hagiwara, H; Kakimoto, S; Nishiyama, N; Nomura, Y; Segawa, M; Yukishita, S, 2000) |
| "Dopa-responsive dystonia (DRD) is induced by a deficiency of GTP cyclohydrolase I (GCH) and has a postulated autosomal dominant inheritance with a low penetrance." | 1.31 | Dopa-responsive dystonia is induced by a dominant-negative mechanism. ( Chiou, YW; Hwu, WL; Lai, SY; Lee, YM, 2000) |
| "Dopa-responsive dystonia (DRD) and tetrahydrobiopterin (BH4) defects are inherited disorders characterized by monoamine neurotransmitter deficiency with decreased activity of one of the BH4-metabolizing enzymes." | 1.31 | Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts. ( Blau, N; Bonafé, L; Kierat, L; Leimbacher, W; Thöny, B, 2001) |
| "Childhood dystonia that does not respond to treatment with levodopa (dopa-nonresponsive dystonia, DND) has an unclear pathogenesis and is notoriously difficult to treat." | 1.31 | Selective decrease in central nervous system serotonin turnover in children with dopa-nonresponsive dystonia. ( Assmann, B; Heales, S; Hoffmann, GF; Köhler, M; Surtees, R, 2002) |
| "Dopa-responsive dystonia (DRD) due to mutant GTP cyclohydrolase I (GCH) shows the considerable heterogeneity of clinical phenotypic expression." | 1.30 | A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia. ( Hirano, M; Komure, O; Ueno, S, 1999) |
| "Dystonia was severe and did not resolve with time in patients with lesions involving the nigrostriatal pathway, and the degree of dopaminergic denervation revealed by positron emission tomography was correlated with the severity of dystonia." | 1.30 | Dopaminergic dysfunction in midbrain dystonia: anatomoclinical study using 3-dimensional magnetic resonance imaging and fluorodopa F 18 positron emission tomography. ( Agid, Y; Dormont, D; Dupel, C; Jedynak, P; Lehéricy, S; Marsault, C; Remy, P; Samson, Y; Serdaru, M; Veber, H; Vidailhet, M, 1999) |
| "Hereditary progressive dystonia (HPD) is caused by the mutant gene encoding GTP cyclohydrolase I (GCH)." | 1.30 | Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia. ( Hirano, M; Ueno, S; Yanagihara, T, 1998) |
| "Parkinsonism without dystonia has been reported in several older members of families with DRD." | 1.29 | Clinical heterogeneity of dopa-responsive dystonia: PET observations. ( Calne, DB; Nygaard, TG; Snow, BJ; Takahashi, H, 1993) |
| "Dopa-responsive dystonia (DRD) is an autosomal-dominant neurological disorder which appears to result from a genetically determined deficiency of striatal dopamine." | 1.29 | Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q. ( Brown, DL; Fahn, S; Gilliam, TC; Nygaard, TG; Risch, NJ; Trugman, JM; Weeks, DE; Wilhelmsen, KC, 1993) |
| "Dopa-responsive dystonia can be present from birth or early infancy." | 1.29 | Dystonia and unique muscle features. A 23-year follow-up and correction of diagnosis in two brothers. ( Charles, PD; Davis, TL; Fenichel, GM; Robertson, D, 1995) |
| " The women continue on a low dosage of levodopa after 9 and 13 years of treatment, with a stable, nearly complete, symptomatic response." | 1.28 | Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia. ( Calne, DB; Fahn, S; Heiman, GA; Nygaard, TG; Snow, BJ; Takahashi, H, 1992) |
| "The syndrome of dopa-responsive dystonia comprises a minority of patients with dystonia, yet it is of considerable diagnostic importance because patients respond dramatically to L-dopa therapy." | 1.28 | Dopa-responsive dystonia: [18F]dopa positron emission tomography. ( Brooks, DJ; Frackowiak, RS; Harwood, G; Leenders, KL; Lees, AJ; Marsden, CD; Sawle, GV, 1991) |
| "In established clinical Parkinson's disease the rostrocaudal gradient becomes steep; the putamen is more damaged." | 1.27 | A rostrocaudal gradient for aromatic acid decarboxylase in the human striatum. ( Chirakal, R; Firnau, G; Garnett, ES; Lang, AE; Nahmias, C, 1987) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 4 (6.06) | 18.7374 |
| 1990's | 32 (48.48) | 18.2507 |
| 2000's | 25 (37.88) | 29.6817 |
| 2010's | 5 (7.58) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Sienaert, P | 1 |
| Rooseleer, J | 1 |
| Peuskens, J | 1 |
| Fujioka, H | 2 |
| Shintaku, H | 1 |
| Kudo, S | 1 |
| Yamano, T | 1 |
| Wu-Chou, YH | 1 |
| Yeh, TH | 1 |
| Wang, CY | 1 |
| Lin, JJ | 1 |
| Huang, CC | 1 |
| Chang, HC | 1 |
| Lai, SC | 1 |
| Chen, RS | 1 |
| Weng, YH | 1 |
| Huang, CL | 1 |
| Lu, CS | 1 |
| Low, K | 1 |
| Harding, T | 1 |
| Jardine, P | 1 |
| Gallagher, P | 1 |
| Archibald, N | 1 |
| Goldsmith, P | 1 |
| Burn, D | 1 |
| Lieu, CA | 1 |
| Deogaonkar, M | 1 |
| Bakay, RA | 1 |
| Subramanian, T | 1 |
| Segawa, M | 3 |
| Klein, C | 2 |
| Hedrich, K | 2 |
| Kabakçi, K | 2 |
| Mohrmann, K | 2 |
| Wiegers, K | 2 |
| Landt, O | 1 |
| Hagenah, J | 2 |
| Schwinger, E | 1 |
| Pramstaller, PP | 1 |
| Ozelius, LJ | 2 |
| Gucuyener, K | 1 |
| Aysun, S | 1 |
| Demir, E | 1 |
| Perlmutter, JS | 1 |
| Mink, JW | 2 |
| Rémy, P | 2 |
| Malek, Z | 1 |
| Itti, E | 1 |
| Saunders-Pullman, R | 1 |
| Habermann, K | 1 |
| Lohnau, T | 1 |
| Raymond, D | 1 |
| Vieregge, P | 1 |
| Nygaard, T | 1 |
| Bressman, SB | 2 |
| Speelman, JD | 1 |
| Asanuma, K | 1 |
| Carbon-Correll, M | 1 |
| Eidelberg, D | 1 |
| Steinberger, D | 2 |
| Trübenbach, J | 1 |
| Zirn, B | 1 |
| Leube, B | 1 |
| Wildhardt, G | 1 |
| Müller, U | 2 |
| De Rosa, A | 1 |
| Carducci, C | 1 |
| Antonozzi, I | 1 |
| Giovanniello, T | 1 |
| Xhoxhi, E | 1 |
| Criscuolo, C | 1 |
| Menchise, V | 1 |
| Striano, S | 1 |
| Filla, A | 1 |
| De Michele, G | 1 |
| Furukawa, Y | 3 |
| Micheli, F | 2 |
| Pardal, MM | 1 |
| Li, J | 1 |
| Tang, BS | 1 |
| Guo, JF | 1 |
| Zhang, YH | 1 |
| Xie, ZG | 1 |
| Yan, XX | 1 |
| Shen, L | 1 |
| Jiang, H | 1 |
| Zhang, XW | 1 |
| Xia, K | 1 |
| Pan, Q | 1 |
| Charles, PD | 1 |
| Davis, TL | 1 |
| Robertson, D | 1 |
| Fenichel, GM | 1 |
| Di Capua, M | 1 |
| Bertini, E | 1 |
| Calne, DB | 7 |
| Snow, BJ | 4 |
| Nygaard, TG | 6 |
| Takahashi, H | 3 |
| Wilhelmsen, KC | 1 |
| Risch, NJ | 1 |
| Brown, DL | 1 |
| Trugman, JM | 2 |
| Gilliam, TC | 1 |
| Fahn, S | 3 |
| Weeks, DE | 1 |
| Turjanski, N | 2 |
| Bhatia, K | 1 |
| Burn, DJ | 1 |
| Sawle, GV | 2 |
| Marsden, CD | 5 |
| Brooks, DJ | 3 |
| Okada, A | 1 |
| Nakamura, K | 1 |
| Bhatt, MH | 1 |
| Nomoto, M | 1 |
| Osame, M | 1 |
| Bhatia, KP | 1 |
| Thrush, D | 1 |
| Hanakawa, T | 1 |
| Fukuyama, H | 1 |
| Akiguchi, I | 1 |
| Kato, M | 2 |
| Kimura, J | 1 |
| Shibasaki, H | 1 |
| de la Fuente-Fernández, R | 2 |
| Kishore, A | 1 |
| Hyland, K | 1 |
| Fryburg, JS | 1 |
| Wilson, WG | 1 |
| Bebin, EM | 1 |
| Arnold, LA | 1 |
| Gunasekera, RS | 1 |
| Jacobson, RD | 1 |
| Rost-Ruffner, E | 1 |
| Gasser, T | 1 |
| Kish, SJ | 2 |
| Hirano, M | 2 |
| Yanagihara, T | 1 |
| Ueno, S | 2 |
| Bandmann, O | 2 |
| Valente, EM | 1 |
| Holmans, P | 1 |
| Surtees, RA | 1 |
| Walters, JH | 1 |
| Wevers, RA | 1 |
| Wood, NW | 2 |
| Künig, G | 1 |
| Leenders, KL | 2 |
| Antonini, A | 1 |
| Vontobel, P | 1 |
| Weindl, A | 1 |
| Meinck, HM | 1 |
| Komure, O | 1 |
| Ichinose, H | 2 |
| Nagatsu, T | 2 |
| Nishiyama, N | 2 |
| Nomura, Y | 2 |
| Vidailhet, M | 1 |
| Dupel, C | 1 |
| Lehéricy, S | 1 |
| Dormont, D | 1 |
| Serdaru, M | 1 |
| Jedynak, P | 1 |
| Veber, H | 1 |
| Samson, Y | 1 |
| Marsault, C | 1 |
| Agid, Y | 1 |
| Gütlich, M | 1 |
| Rajput, AH | 1 |
| Pifl, C | 1 |
| DiStefano, L | 1 |
| Chang, LJ | 1 |
| Price, K | 1 |
| Shimadzu, M | 1 |
| Hornykiewicz, O | 1 |
| Haycock, JW | 1 |
| Kawano, H | 1 |
| Takeuchi, Y | 1 |
| Misawa, A | 1 |
| Sawada, T | 1 |
| Imahori, Y | 1 |
| Yukishita, S | 1 |
| Hagiwara, H | 1 |
| Kakimoto, S | 1 |
| Hwu, WL | 2 |
| Wang, PJ | 1 |
| Hsiao, KJ | 1 |
| Wang, TR | 1 |
| Chiou, YW | 2 |
| Lee, YM | 2 |
| Lai, SY | 1 |
| Korinthenberg, R | 1 |
| Topka, H | 1 |
| Berghäuser, M | 1 |
| Wedde, R | 1 |
| Bonafé, L | 2 |
| Thöny, B | 1 |
| Leimbacher, W | 1 |
| Kierat, L | 1 |
| Blau, N | 2 |
| Nair, KR | 1 |
| Cheng, WW | 1 |
| Kong, CK | 1 |
| Hwang, WJ | 1 |
| Tsui, JK | 1 |
| Skrygan, M | 1 |
| Bartholomé, B | 1 |
| Bartholomé, K | 1 |
| Suzuki, T | 1 |
| Inagaki, H | 1 |
| Ohye, T | 1 |
| Assmann, B | 1 |
| Köhler, M | 1 |
| Hoffmann, GF | 1 |
| Heales, S | 1 |
| Surtees, R | 1 |
| Otsuka, M | 1 |
| Ichiya, Y | 1 |
| Shima, F | 1 |
| Kuwabara, Y | 1 |
| Sasaki, M | 1 |
| Fukumura, T | 1 |
| Masuda, K | 1 |
| Goto, I | 1 |
| Heiman, GA | 1 |
| Kaiser, R | 1 |
| Ziegler, G | 1 |
| Olsson, JE | 1 |
| Brunk, U | 1 |
| Lindvall, B | 1 |
| Eeg-Olofsson, O | 1 |
| Harwood, G | 1 |
| Lees, AJ | 1 |
| Frackowiak, RS | 1 |
| Pardal, MF | 1 |
| Gatto, E | 1 |
| Paradiso, G | 1 |
| Müller, K | 1 |
| Hömberg, V | 1 |
| Lenard, HG | 1 |
| Boyes, BE | 1 |
| Cumming, P | 1 |
| Martin, WR | 2 |
| McGeer, EG | 1 |
| Garnett, ES | 1 |
| Lang, AE | 1 |
| Chirakal, R | 1 |
| Firnau, G | 1 |
| Nahmias, C | 1 |
10 reviews available for dihydroxyphenylalanine and Dystonia
| Article | Year |
|---|---|
Dopa-responsive dystonia.
Topics: Dihydroxyphenylalanine; Dopamine Agents; Dystonia; Humans; Models, Biological | 2011 |
Dysfunction of dopaminergic pathways in dystonia.
Topics: Animals; Basal Ganglia; Brain Mapping; Dihydroxyphenylalanine; Dopamine; Dystonia; Humans; In Vitro | 2004 |
Contributions of positron emission tomography to elucidating the pathogenesis of idiopathic parkinsonism and dopa responsive dystonia.
Topics: Brain; Diagnosis, Differential; Dihydroxyphenylalanine; Dystonia; Fluorine Radioisotopes; Humans; Ne | 1997 |
Idiopathic, myoclonic and Dopa-responsive dystonia.
Topics: Dihydroxyphenylalanine; Dystonia; Dystonia Musculorum Deformans; Humans; Myoclonus; Phenotype | 1997 |
Dystonia.
Topics: Age of Onset; Dihydroxyphenylalanine; Dopamine Agents; Dystonia; Dystonia Musculorum Deformans; Gene | 1998 |
Molecular genetics of DOPA-responsive dystonia.
Topics: Child; Dihydroxyphenylalanine; Dystonia; Genes, Dominant; Genes, Recessive; Humans; Molecular Biolog | 1999 |
DOPA-responsive dystonic parkinsonism--pathophysiologic considerations.
Topics: Aging; Basal Ganglia; Base Sequence; Dihydroxyphenylalanine; Dystonia; GTP Cyclohydrolase; Humans; M | 1999 |
DOPA-responsive dystonia. From causative gene to molecular mechanism.
Topics: Dihydroxyphenylalanine; Dopamine Agents; Dystonia; Family Health; Humans; Pedigree | 2001 |
Dopa-responsive dystonia -- the story so far.
Topics: Child, Preschool; Dihydroxyphenylalanine; Dopamine Agents; Dystonia; Humans; Infant; Infant, Newborn | 2002 |
Positron emission tomography in movement disorders.
Topics: Brain; Cerebrovascular Circulation; Corpus Striatum; Dihydroxyphenylalanine; Dopamine; Dystonia; Glu | 1985 |
1 trial available for dihydroxyphenylalanine and Dystonia
| Article | Year |
|---|---|
Influence of development and aging on brain biopterin: implications for dopa-responsive dystonia onset.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Aging; Biopterins; Child; Child, Preschool; Dihydroxyphe | 1998 |
55 other studies available for dihydroxyphenylalanine and Dystonia
| Article | Year |
|---|---|
Uneventful electroconvulsive therapy in a patient with dopa-responsive dystonia (Segawa syndrome).
Topics: Affective Disorders, Psychotic; Delusions; Dihydroxyphenylalanine; Dopamine Agents; Dystonia; Electr | 2009 |
Plasma phenylalanine level in dopa-responsive dystonia.
Topics: Analysis of Variance; Dihydroxyphenylalanine; Dopamine Agents; Dystonia; GTP Cyclohydrolase; Humans; | 2009 |
High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia.
Topics: Adult; Asian People; Case-Control Studies; Cohort Studies; Dihydroxyphenylalanine; Dystonia; Dystoni | 2010 |
Dopa responsive dystonia.
Topics: Adaptation, Psychological; Anecdotes as Topic; Dihydroxyphenylalanine; Disabled Persons; Dopamine Ag | 2010 |
Two in the hand, an essential lesson in tremor management.
Topics: Adult; Dihydroxyphenylalanine; Dystonia; Essential Tremor; Female; Functional Laterality; GTP Cycloh | 2010 |
Dyskinesias do not develop after chronic intermittent levodopa therapy in clinically hemiparkinsonian rhesus monkeys.
Topics: 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine; Animals; Antiparkinson Agents; Behavior, Animal; Carot | 2011 |
Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia.
Topics: Adult; Child; Dihydroxyphenylalanine; DNA; Dopamine Agents; Dystonia; Exons; Female; Gene Deletion; | 2002 |
[123I-Ioflupane brain scintigraphy (DaTScan) to demonstrate loss of nigrostratal dopaminergic neurons: principles and applications].
Topics: Cocaine; Dihydroxyphenylalanine; Dystonia; Humans; Iodine Radioisotopes; Neostriatum; Parkinson Dise | 2003 |
High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening.
Topics: Adolescent; Adult; Age Factors; Age of Onset; Brain; Dihydroxyphenylalanine; DNA Mutational Analysis | 2005 |
Treatment strategies in movement disorders.
Topics: Adult; Botulinum Toxins; Cerebral Palsy; Dihydroxyphenylalanine; Dopamine Agents; Dystonia; Female; | 2005 |
Neuroimaging in human dystonia.
Topics: Anisotropy; Basal Ganglia; Blepharospasm; Carbon Radioisotopes; Case-Control Studies; Dihydroxypheny | 2005 |
Abnormal circuit function in dystonia.
Topics: Brain; Dihydroxyphenylalanine; Dystonia; Humans; Levodopa; Spinal Cord | 2006 |
Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.
Topics: Aged; Dihydroxyphenylalanine; DNA Primers; Dystonia; Exons; Female; GTP Cyclohydrolase; Humans; Male | 2007 |
A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia.
Topics: Adolescent; Dihydroxyphenylalanine; DNA Mutational Analysis; Dopamine Agents; Dystonia; Family Healt | 2007 |
[Dopa-responsive dystonia].
Topics: Child; Child, Preschool; Dihydroxyphenylalanine; Dystonia; Humans; Infant | 2006 |
Dopa-responsive dystonic camptocormia.
Topics: Adult; Dihydroxyphenylalanine; Dopamine Agents; Dystonia; Female; Humans; Kyphosis; Muscle, Skeletal | 2007 |
[Mutation analysis of GCH1 gene in Chinese patients with dopa responsive dystonia].
Topics: Asian People; Case-Control Studies; Dihydroxyphenylalanine; DNA; DNA Mutational Analysis; Dystonia; | 2007 |
Dystonia and unique muscle features. A 23-year follow-up and correction of diagnosis in two brothers.
Topics: Adult; Dihydroxyphenylalanine; Drug Resistance; Dystonia; Follow-Up Studies; Humans; Male; Muscles | 1995 |
Remission in dihydroxyphenylalanine-responsive dystonia.
Topics: Child; Dihydroxyphenylalanine; Dystonia; Humans; Levodopa; Male; Movement Disorders; Treatment Outco | 1995 |
Dopa-responsive dystonia.
Topics: Dihydroxyphenylalanine; Dystonia; Humans | 1994 |
Positron emission tomographic studies of dopa-responsive dystonia and early-onset idiopathic parkinsonism.
Topics: Adolescent; Adult; Corpus Striatum; Diagnosis, Differential; Dihydroxyphenylalanine; Dystonia; Femal | 1993 |
Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q.
Topics: Chromosome Mapping; Chromosomes, Human, Pair 14; Dihydroxyphenylalanine; Dystonia; Family; Female; G | 1993 |
Comparison of striatal 18F-dopa uptake in adult-onset dystonia-parkinsonism, Parkinson's disease, and dopa-responsive dystonia.
Topics: Adult; Age Factors; Caudate Nucleus; Dihydroxyphenylalanine; Dystonia; Female; Humans; Levodopa; Mal | 1993 |
Clinical heterogeneity of dopa-responsive dystonia: PET observations.
Topics: Adult; Aged; Corpus Striatum; Diagnosis, Differential; Dihydroxyphenylalanine; Dystonia; Female; Hum | 1993 |
PET scan study on the dopaminergic system in a Japanese patient with hereditary progressive dystonia (Segawa's disease). Case report.
Topics: Corpus Striatum; Dihydroxyphenylalanine; Dystonia; Female; Humans; Japan; Levodopa; Middle Aged; Neu | 1993 |
The usefulness of functional imaging in movement disorders: an illustrative case.
Topics: Adult; Diagnosis, Differential; Dihydroxyphenylalanine; Dystonia; Female; Fluorine Radioisotopes; Hu | 1996 |
[A case of familial juvenile dystonia-parkinsonism: 18F-6-fluorodopa and 18F-fluoro-2-deoxyglucose PET study].
Topics: Adult; Age of Onset; Brain; Deoxyglucose; Dihydroxyphenylalanine; Dystonia; Female; Fluorine Radiois | 1996 |
Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test.
Topics: Administration, Oral; Adolescent; Adult; Aged; Aged, 80 and over; Aging; Biopterins; Child, Preschoo | 1997 |
Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia.
Topics: Adolescent; Animals; COS Cells; Dihydroxyphenylalanine; Dystonia; Female; Gait; Genes, Dominant; GTP | 1998 |
Dopa-responsive dystonia: a clinical and molecular genetic study.
Topics: 5' Untranslated Regions; Adolescent; Adult; Base Sequence; Child; Child, Preschool; Dihydroxyphenyla | 1998 |
D2 receptor binding in dopa-responsive dystonia.
Topics: Adolescent; Adult; Age of Onset; Aging; Carbon Radioisotopes; Caudate Nucleus; Dihydroxyphenylalanin | 1998 |
A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia.
Topics: Adult; Dihydroxyphenylalanine; Dopamine Agents; Dose-Response Relationship, Drug; Dystonia; Female; | 1999 |
Dopaminergic dysfunction in midbrain dystonia: anatomoclinical study using 3-dimensional magnetic resonance imaging and fluorodopa F 18 positron emission tomography.
Topics: Adolescent; Aged; Cerebellum; Cerebrovascular Disorders; Corpus Striatum; Dihydroxyphenylalanine; Do | 1999 |
Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia.
Topics: Adult; Aged; Biopterins; Corpus Striatum; Dihydroxyphenylalanine; Dystonia; Female; Humans; Tyrosine | 1999 |
Putaminal necrosis presenting with hemidystonia.
Topics: Antiparkinson Agents; Brain Diseases; Child; Dihydroxyphenylalanine; Dose-Response Relationship, Dru | 2000 |
Gene mutation in hereditary progressive dystonia with marked diurnal fluctuation (HPD), strictly defined dopa-responsive dystonia.
Topics: Dihydroxyphenylalanine; DNA Mutational Analysis; Dystonia; Dystonic Disorders; Exons; Female; GTP Cy | 2000 |
Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation.
Topics: Amino Acid Substitution; Cell Line; Child; Dihydroxyphenylalanine; DNA; DNA Mutational Analysis; DNA | 1999 |
Dopa-responsive dystonia is induced by a dominant-negative mechanism.
Topics: Animals; Cricetinae; Dihydroxyphenylalanine; Dystonia; GTP Cyclohydrolase; Kidney; Mutation | 2000 |
Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group.
Topics: Adult; Aged; Child; Dihydroxyphenylalanine; Dystonia; Female; GTP Cyclohydrolase; Humans; Male; Midd | 2000 |
Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.
Topics: Alcohol Oxidoreductases; Biopterins; Cell Extracts; Cells, Cultured; Cytokines; Dihydropteridine Red | 2001 |
Dopa responsive dystonia and the Indian literature.
Topics: Dihydroxyphenylalanine; Dopamine Agents; Dystonia; Humans; Publishing | 1995 |
Girl with dopa-responsive dystonia.
Topics: Antiparkinson Agents; Child; Dihydroxyphenylalanine; Dystonia; Female; Humans; Treatment Outcome | 2001 |
The long-term response to levodopa in dopa-responsive dystonia.
Topics: Adolescent; Adult; Aged; Dihydroxyphenylalanine; Dopamine Agents; Dystonia; Female; Humans; Levodopa | 2001 |
A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping.
Topics: Alleles; Amino Acid Sequence; Aromatic Amino Acid Decarboxylase Inhibitors; Base Sequence; Benserazi | 2001 |
Selective decrease in central nervous system serotonin turnover in children with dopa-nonresponsive dystonia.
Topics: Adolescent; Central Nervous System; Child; Child, Preschool; Dihydroxyphenylalanine; Dopamine Agents | 2002 |
Increased striatal 18F-dopa uptake and normal glucose metabolism in idiopathic dystonia syndrome.
Topics: Adult; Caudate Nucleus; Deoxyglucose; Dihydroxyphenylalanine; Dopamine; Dystonia; Dystonia Musculoru | 1992 |
Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia.
Topics: Adult; Aged; Brain; Child; Child, Preschool; Dihydroxyphenylalanine; Dystonia; Family; Female; Fluor | 1992 |
Hereditary progressive dystonia with diurnal fluctuation (Segawa's syndrome)--an unusual case.
Topics: Body Weight; Child; Chromosomes, Human, Pair 9; Circadian Rhythm; Dihydroxyphenylalanine; Dystonia; | 1992 |
Dopa-responsive dystonia with depigmentation of the substantia nigra and formation of Lewy bodies.
Topics: Adult; Bromocriptine; Cerebrospinal Fluid Proteins; Dihydroxyphenylalanine; Dopamine; Drug Therapy, | 1992 |
Dopa-responsive dystonia: [18F]dopa positron emission tomography.
Topics: Adolescent; Adult; Aged; Biological Transport; Caudate Nucleus; Decarboxylation; Dihydroxyphenylalan | 1991 |
Dopa-responsive dystonia: long-term treatment response and prognosis.
Topics: Adolescent; Adult; Carbamazepine; Child; Child, Preschool; Depression; Dihydroxyphenylalanine; Disab | 1991 |
Dopa-responsive dystonia masquerading as idiopathic kyphoscoliosis.
Topics: Adult; Circadian Rhythm; Diagnosis, Differential; Dihydroxyphenylalanine; Dystonia; Female; Humans; | 1991 |
Motor control in childhood onset dopa-responsive dystonia (Segawa syndrome).
Topics: Adolescent; Child; Dihydroxyphenylalanine; Dystonia; Humans; Male | 1989 |
Determination of plasma [18F]-6-fluorodopa during positron emission tomography: elimination and metabolism in carbidopa treated subjects.
Topics: 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine; Age Factors; Carbidopa; Chromatography, High Pressure | 1986 |
A rostrocaudal gradient for aromatic acid decarboxylase in the human striatum.
Topics: Adolescent; Adult; Aging; Aromatic-L-Amino-Acid Decarboxylases; Child; Corpus Striatum; Dihydroxyphe | 1987 |