Dopamine-Responsive Dystonia Differential Diagnoses

1. Segawa M, Hosaka A, Miyagawa F, Nomura Y, Imai H. Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol. 1976. 14:215-33. [QxMD MEDLINE Link].

2. Friedman JR. What Is Not in the Name? Dopa-Responsive Dystonia May Respond to More Than L-Dopa. Pediatr Neurol. 2016 Jun. 59:76-80. [QxMD MEDLINE Link].

3. Chen RS, Huang CC, Lu CS. Dopa-responsive dystonia: clinical and family study in Taiwanese. Clin Neurol Neurosurg. 1996 Feb. 98(1):43-6. [QxMD MEDLINE Link].

4. Nygaard TG. Dopa-responsive dystonia. Curr Opin Neurol. 1995 Aug. 8(4):310-3. [QxMD MEDLINE Link].

5. Maruta K, Okamoto S, Takegami T. [A form of dopa-responsive dystonia of late onset with diurnal fluctuations]. Rinsho Shinkeigaku. 1993 Mar. 33(3):341-3. [QxMD MEDLINE Link].

6. Nomura Y. [The clinical characteristics of involuntary movements in childhood]. No To Hattatsu. 1997 May. 29(3):199-205. [QxMD MEDLINE Link].

7. Ludecke B, Dworniczak B, Bartholome K. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum Genet. 1995 Jan. 95(1):123-5. [QxMD MEDLINE Link].

8. Nygaard TG, Wilhelmsen KC, Risch NJ, Brown DL, Trugman JM, Gilliam TC. Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q. Nat Genet. 1993 Dec. 5(4):386-91. [QxMD MEDLINE Link].

9. Ichinose H, Ohye T, Takahashi E, Seki N, Hori T, Segawa M. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet. 1994 Nov. 8(3):236-42. [QxMD MEDLINE Link].

10. Thony B, Blau N. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum Mutat. 2006 Sep. 27(9):870-8. [QxMD MEDLINE Link].

11. Gasser T. Idiopathic, myoclonic and Dopa-responsive dystonia. Curr Opin Neurol. 1997 Aug. 10(4):357-62. [QxMD MEDLINE Link].

12. Bartholome K, Ludecke B. Mutations in the tyrosine hydroxylase gene cause various forms of L-dopa-responsive dystonia. Adv Pharmacol. 1998. 42:48-9. [QxMD MEDLINE Link].

13. Liu X, Zhang SS, Fang DF, Ma MY, Guo XY, Yang Y, et al. GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia. Mov Disord. 2010 Mar 15. 25(4):447-51. [QxMD MEDLINE Link].

14. Kim JI, Choi JK, Lee JW, Kim J, Ki CS, Hong JY. A novel missense mutation in GCH1 gene in a Korean family with Segawa disease. Brain Dev. 2014 Jun 16. [QxMD MEDLINE Link].

15. Neville BG, Parascandalo R, Farrugia R, Felice A. Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder. Brain. 2005 Oct. 128(Pt 10):2291-6. [QxMD MEDLINE Link].

16. Zielonka M, Makhseed N, Blau N, Bettendorf M, Hoffmann GF, Opladen T. Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency. JIMD Rep. 2015. 24:109-13. [QxMD MEDLINE Link]. [Full Text].

17. Furukawa Y, Kish SJ. Dopa-responsive dystonia: recent advances and remaining issues to be addressed. Mov Disord. 1999 Sep. 14(5):709-15. [QxMD MEDLINE Link].

18. Takahashi H, Levine RA, Galloway MP, Snow BJ, Calne DB, Nygaard TG. Biochemical and fluorodopa positron emission tomographic findings in an asymptomatic carrier of the gene for dopa-responsive dystonia. Ann Neurol. 1994 Mar. 35(3):354-6. [QxMD MEDLINE Link].

19. Hagenah J, Saunders-Pullman R, Hedrich K, Kabakci K, Habermann K, Wiegers K. High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening. Neurology. 2005 Mar 8. 64(5):908-11. [QxMD MEDLINE Link].

20. de la Fuente-Fernandez R, Schulzer M, Mak E, Calne DB, Stoessl AJ. Presynaptic mechanisms of motor fluctuations in Parkinson's disease: a probabilistic model. Brain. 2004 Apr. 127(Pt 4):888-99. [QxMD MEDLINE Link].

21. Furukawa Y, Lang AE, Trugman JM, Bird TD, Hunter A, Sadeh M. Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia. Neurology. 1998 Apr. 50(4):1015-20. [QxMD MEDLINE Link].

22. Segawa M, Nomura Y, Kase M. Diurnally fluctuating hereditary progressive dystonia. Handbook of Clinical Neurology, Extrapyramidal Disorders. Elsevier: Amsterdam; 1986. Vol 5: 529-539.

23. Deonna T, Roulet E, Ghika J, Zesiger P. Dopa-responsive childhood dystonia: a forme fruste with writer's cramp, triggered by exercise. Dev Med Child Neurol. 1997 Jan. 39(1):49-53. [QxMD MEDLINE Link].

24. Steinberger D, Topka H, Fischer D, Müller U. GCH1 mutation in a patient with adult-onset oromandibular dystonia. Neurology. 1999 Mar 10. 52(4):877-9. [QxMD MEDLINE Link].

25. Brautigam C, Wevers RA, Jansen RJ, Smeitink JA, de Rijk-van Andel JF, Gabreels FJ. Biochemical hallmarks of tyrosine hydroxylase deficiency. Clin Chem. 1998 Sep. 44(9):1897-904. [QxMD MEDLINE Link].

26. Ludecke B, Knappskog PM, Clayton PT, Surtees RA, Clelland JD, Heales SJ. Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Hum Mol Genet. 1996 Jul. 5(7):1023-8. [QxMD MEDLINE Link].

27. Cheyette BN, Cheyette SN, Cusmano-Ozog K, Enns GM. Dopa-responsive dystonia presenting as delayed and awkward gait. Pediatr Neurol. 2008 Apr. 38(4):273-5. [QxMD MEDLINE Link].

28. Rauschendorf MA, Jost M, Stock F, et al. Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome. Mov Disord. 2017 Mar. 32 (3):478-480. [QxMD MEDLINE Link].

29. Robinson R, McCarthy GT, Bandmann O, Dobbie M, Surtees R, Wood NW. GTP cyclohydrolase deficiency; intrafamilial variation in clinical phenotype, including levodopa responsiveness. J Neurol Neurosurg Psychiatry. 1999 Jan. 66(1):86-9. [QxMD MEDLINE Link].

30. Segawa M, Nishiyama N, Nomura Y. DOPA-responsive dystonic parkinsonism--pathophysiologic considerations. Adv Neurol. 1999. 80:389-400. [QxMD MEDLINE Link].

31. Yokochi M. Juvenile Parkinson's disease. Part I. Clinical aspects. Adv Neurol Sci. 1979. 23:1060-1073.

32. Jeon BS, Jeong JM, Park SS, Kim JM, Chang YS, Song HC. Dopamine transporter density measured by [123I]beta-CIT single-photon emission computed tomography is normal in dopa-responsive dystonia. Ann Neurol. 1998 Jun. 43(6):792-800. [QxMD MEDLINE Link].

33. Nygaard TG, Waran SP, Levine RA, Naini AB, Chutorian AM. Dopa-responsive dystonia simulating cerebral palsy. Pediatr Neurol. 1994 Oct. 11(3):236-40. [QxMD MEDLINE Link].

34. Fujita S, Shintaku H. Etiology and pteridine metabolism abnormality of hereditary progressive dystonia with marked diurnal fluctuation (HPD: Segawa disease). Med J Kushiro City Hosp. 1990. 2:64-67.

35. Segawa M, Nomura Y. Hereditary progressive dystonia with marked diurnal fluctuation. Pathophysiological importance of the age of onset. Adv Neurol. 1993. 60:568-76. [QxMD MEDLINE Link].

36. Hyland K, Fryburg JS, Wilson WG, Bebin EM, Arnold LA, Gunasekera RS. Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test. Neurology. 1997 May. 48(5):1290-7. [QxMD MEDLINE Link].

37. Saunders-Pullman RJ, Raymond D, Hyland K, et al. Markers of disease in dopa-responsive dystonia. Mov Disord. 1998. 13(suppl 2):285.

38. Saunders-Pullman R, Blau N, Hyland K, Zschocke J, Nygaard T, Raymond D. Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test. Mol Genet Metab. 2004 Nov. 83(3):207-12. [QxMD MEDLINE Link].

39. Furukawa Y, Shimadzu M, Rajput AH, Shimizu Y, Tagawa T, Mori H. GTP-cyclohydrolase I gene mutations in hereditary progressive amd dopa-responsive dystonia. Ann Neurol. 1996 May. 39(5):609-17. [QxMD MEDLINE Link].

40. Rajput AH, Gibb WR, Zhong XH, Shannak KS, Kish S, Chang LG. Dopa-responsive dystonia: pathological and biochemical observations in a case. Ann Neurol. 1994 Apr. 35(4):396-402. [QxMD MEDLINE Link].

41. Snow BJ, Okada A, Martin WRW. Positron emission tomography scanning in dopa-responsive dystonia, parkinsonism-dystonia, and young-onset parkinsonism. Hereditary progressive dystonia with marked diurnal fluctuation, carnforth, U.K,. 1993. 181-186.

42. Sawle GV, Leenders KL, Brooks DJ, Harwood G, Lees AJ, Frackowiak RS. Dopa-responsive dystonia: [18F]dopa positron emission tomography. Ann Neurol. 1991 Jul. 30(1):24-30. [QxMD MEDLINE Link].

43. Alongi P, Iaccarino L, Perani D. PET Neuroimaging: Insights on Dystonia and Tourette Syndrome and Potential Applications. Front Neurol. 2014. 5:183. [QxMD MEDLINE Link]. [Full Text].

44. Rinne JO, Iivanainen M, Metsahonkala L, Vainionpaa L, Paakkonen L, Nagren K. Striatal dopaminergic system in dopa-responsive dystonia: a multi-tracer PET study shows increased D2 receptors. J Neural Transm. 2004 Jan. 111(1):59-67. [QxMD MEDLINE Link].

45. Hwang WJ, Yao WJ, Wey SP, Ting G. Clinical and [99mTc]TRODAT-1/[123I]IBZM SPECT imaging findings in dopa-responsive dystonia. Eur Neurol. 2004. 51(1):26-9. [QxMD MEDLINE Link].

46. Hsu KY, Kuo KN, Hsu RW. Correction of foot deformity by the Ilizarov method in a patient with Segawa disease. Clin Orthop Relat Res. 1995 May. (314):199-202. [QxMD MEDLINE Link].

47. Thony B, Calvo AC, Scherer T, Svebak RM, Haavik J, Blau N. Tetrahydrobiopterin shows chaperone activity for tyrosine hydroxylase. J Neurochem. 2008 Jul. 106(2):672-81. [QxMD MEDLINE Link].

48. de la Fuente-Fernandez R. Drug-induced motor complications in dopa-responsive dystonia: implications for the pathogenesis of dyskinesias and motor fluctuations. Clin Neuropharmacol. 1999 Jul-Aug. 22(4):216-9. [QxMD MEDLINE Link].

49. Hwu WL, Wang PJ, Shen YZ. Hereditary progressive dystonia with marked diurnal fluctuation: report of a case. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1989 Jan-Feb. 30(1):46-51. [QxMD MEDLINE Link].

50. Gherpelli JL, Nagae LM, Diament A. DOPA-sensitive progressive dystonia of childhood with diurnal fluctuations of symptoms: a case report. Arq Neuropsiquiatr. 1995 Jun. 53(2):298-301. [QxMD MEDLINE Link].

51. Wang PJ, Ko YM, Young C, Hwu WL, Shen YZ. Hereditary progressive dystonia with marked diurnal fluctuation (Segawa syndrome) in Taiwan. Brain Dev. 1994 Mar-Apr. 16(2):126-31. [QxMD MEDLINE Link].

52. Dewey RB Jr, Muenter MD, Kishore A, Snow BJ. Long-term follow-up of levodopa responsiveness in generalized dystonia. Arch Neurol. 1998 Oct. 55(10):1320-3. [QxMD MEDLINE Link].

53. Ishida A, Takada G, Kobayashi Y, Toyoshima I, Takai K. Effect of tetrahydrobiopterin and 5-hydroxytryptophan on hereditary progressive dystonia with marked diurnal fluctuation: a suggestion of the serotonergic system involvement. Tohoku J Exp Med. 1988 Mar. 154(3):233-9. [QxMD MEDLINE Link].

54. Nawaz MS, Parveen Z, Wang L, Rashid S, Fatmi MQ, Kamal MA. Computational Study of Human Tyrosine Hydroxylase Mutants to Uphold [4-(Propan-2-yl) Phenyl]Carbamic Acid as a Potential Inhibitor. CNS Neurol Disord Drug Targets. 2014 Sep 17. [QxMD MEDLINE Link].

Nirjal K Nikhar, MD, FRCP Private Practice

Nirjal K Nikhar, MD, FRCP is a member of the following medical societies: American Academy of Neurology

Disclosure: Nothing to disclose.

Haresh Mani, MD Assistant Professor, Department of Pathology, Milton S Hershey Medical Center, Pennsylvania State University College of Medicine

Disclosure: Nothing to disclose.

Syed M S Ahmed, MD Neurologist and Sleep Specialist, Capital Neurology and Sleep Medicine; Staff Attending in Neurology and Sleep Medicine, Montgomery General Hospital; Staff Attending in Neurology and Sleep Medicine, Suburban Hospital

Syed M S Ahmed, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, Maryland State Medical Society

Disclosure: Nothing to disclose.

Amy Kao, MD Attending Neurologist, Children's National Medical Center

Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, Child Neurology Society

Disclosure: Have stock (managed by a financial services company) in healthcare companies including Allergan, Cellectar Biosciences, CVS Health, Danaher Corp, Johnson & Johnson.

Nestor Galvez-Jimenez, MD, MSc, MHA Chairman, Department of Neurology, Program Director, Movement Disorders, Department of Neurology, Division of Medicine, Cleveland Clinic Florida

Nestor Galvez-Jimenez, MD, MSc, MHA is a member of the following medical societies: American Academy of Neurology, American College of Physicians, and Movement Disorders Society

Disclosure: Nothing to disclose.

Ann M Neumeyer, MD Clinic Director, Instructor, Departments of Neurology and Pediatrics, Massachusetts General Hospital, Harvard Medical School

Ann M Neumeyer, MD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, and Massachusetts Medical Society

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Reference Salary Employment

• Print this section
• Print the entire contents of
• Print the entire contents of article