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GTP Cyclohydrolase I in Inherited Dystonia and Its Pathophysiological Importance

  • M. Segawa
  • Y. Nomura
  • R. Tanaka
  • T. Tanaka
  • Y. Shitaka
  • F. Okada
  • N. Nishiyama
  • H. Fukuda
  • O. Hikosaka
Part of the Advances in Behavioral Biology book series (ABBI, volume 47)

Abstract

Hereditary progressive dystonia with marked diurnal fluctuation (HPD) is an autosomally dominantly inherited postural dystonia with onset in childhood and is characterized by marked diurnal fluctuation of symptoms and marked and sustained response to levodopa without any side effects (Segawa, 1981; Segawa et al., 1986). HPD also has particular neuropathological, neurohistochemical and biochemical characteristics, which demarcate it from torsion dystonia and other levodopa responsive disorders (Segawa and Nomura, 1995).

Keywords

Basal Ganglion Parkinson Disease Voluntary Saccade Tyrosine Hydroxylase Gene Postural Dystonia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Crossman, A.R., Animal models of movement disorders, presented at the First International Congress on Movement Disorders, Washington, DC, April 1990.Google Scholar
  2. Fujita, S. and Shintaku, H.,1990, Etiology and pteridin metabolism abnormality of hereditary progressive dystonia with marked diurnal fluctuation (HPD: Segawa disease). Med, J. Kushiro City Hosp. 2: 64–67.Google Scholar
  3. Furukawa, Y., Nishi, K., Kondo, T., Mizuno, Y., and Narabayashi, H., 1993, CSF biopterin levels and clinical features of patients with juvenile parkinsonism, in Advances in Neurology, Volume 60 (H. Narabayashi, T. Nagatsu, N. Yanagisawa, and Y. Mizuno, eds). Raven Press, New York, pp 562–567.Google Scholar
  4. Gibb, W.R.G., Narabayashi, H., Yokochi, M. Izuka, R. and Lees, A.J., 1991, New pathologic observations in juvenile onset parkinsonism with dystonia. Neurology 41:820–822.CrossRefGoogle Scholar
  5. Graybiel, A.M. and Ragsdal C.W., Jr., 1978, Histochemically distinct compartments in the striatum of humans, monkey and cat demonstrated by acetylthiocholinesterase staining. Proc. Natl. Acad. Sci. U.S.A. 75:5723–5726.PubMedCrossRefGoogle Scholar
  6. Hikosaka, O., Fukuda, H., Kato, M., Uetake, K., Nomura, Y. and Segawa, M., 1993. Deficits in saccadic eye movements in hereditary progressive dystonia with marked diurnal fluctuation, in: Hereditary Progressive Dystonia with Marked Diurnal Fluctuation (M. Segawa, ed.): Parthenon, Carnforth, UK, pp 159–177.Google Scholar
  7. Hornykiewicz, O., 1995, Striatal dopamine in dopa-responsive dystonia: Comparison with idiopathic Parkinson’s disease and other dopamine-dependent disorders, in: Age-Related Dopamine-Dependent Disorders, Monogr Neural Sci., Vol. 14. (M. Segawa, Y. Nomura, eds.) Basel, Karger, pp. 101–108.Google Scholar
  8. Ichinose, H., Ohye, T., Takahashi, E., Seki, N., Hori, T., Segawa, M., Nomura, Y., Endo, K., Tanaka, H., Tsuji, S., Fujita, K., and Nagatsu, T., 1994, Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene, Nature Genetics 8:236–242.PubMedCrossRefGoogle Scholar
  9. Ichinose, H., Ohye, T., Yokochi, M., Fujita, K. and Nagatsu T., 1995a, GTP cyclohydrolase I activity in mononuclear blood cells in juvenile parkinsonism, Neurosci. Lett. 190:140–142.PubMedCrossRefGoogle Scholar
  10. Ichinose, H., Ohye, T., Segawa, M., Tsuji, S., Fujita, K. and Nagatsu, T., 1995b, GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation, Neurosci. Lett. 196: 5–8.PubMedCrossRefGoogle Scholar
  11. Kato, M. and Hikosaka O., 1995, Function of the indirect pathway in the basal ganglia oculomotor system: Visuo-oculomotor activities of external pallidum neurons, in: Age-Related Dopamine-Dependent Disorders, Monogr Neural Sci., Vol. 14. (M. Segawa, Y. Nomura, eds.) Basel, Karger, pp. 178–187.Google Scholar
  12. Leenders, K.L., Antonini, A., Meinck, H-M., and Weindl. A., 1995, Striatal dopamine D2 receptors in dopa-responsive dystonia and Parkinson’s disease, in: Age-Related Dopamine-Dependent Disorders, Monogr Neural Sci., Volume 14 (Segawa M. and Nomura Y. eds.) Karger, Basel, pp.95–100.Google Scholar
  13. Lüdecke, B., Dworniczak, B. and Bartholomé, K., 1995, A point mutation in the tyrosine hydroxylase gene associated with Segawa’s syndrome, Hum. Genet. 95:123–125.PubMedGoogle Scholar
  14. McGeer, E.G, and McGeer, P.L., 1973, Some characteristics of brain tyrosine hydroxylase, in: New Concepts in Neurotransmitter Regulation (J. Mandel ed.), Plenum, Press, New York, London, pp. 53–68.CrossRefGoogle Scholar
  15. Mitchell, I.J., Luquin, R., Boyce, S., Clarke, C.E., Robertson, R.G., Sambrook, M.A. and Crossman, A.R., 1990, Neural mechanisms of dystonia: Evidence from a 2-deoxyglucose uptake study in a primate model of dopamine agonist-induced dystonia. Mov. Disord. 5:49–54.PubMedCrossRefGoogle Scholar
  16. Muller, K., Homberg, V. and Lenard, H.G., 1989, Motor control in childhood onset dopa responsive dystonia (Segawa syndrome). Neuropediatrics, 20: 185.PubMedCrossRefGoogle Scholar
  17. Narabayashi, H., Yokochi, F. and Nakajima, Y., 1984, Levodopa-induced dyskinesia and thalamotomy, J. Neuro. Neurosurg. Psychiatr. 46:831–839.CrossRefGoogle Scholar
  18. Niederwieser, A., Blau, N., Wang, M. Joller, P., Atarés, M. and Cardesa-Garcia, J., 1984, GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine and serotonin deficiencies and muscular hypotonia, Eur. J. Pediatr. 141:208–214.PubMedCrossRefGoogle Scholar
  19. Nomura, Y. and Segawa, M., 1993, Intrafamilial and interfamilial variations of symptoms of Japanese hereditary progressive dystonia with marked diurnal fluctuation, in: Hereditary Progressive Dystonia with Marked Diurnal Fluctuation (M. Segawa ed.): Parthenon, Carnforth, UK, pp 73–96.Google Scholar
  20. Nygaard, T.G., Wihelmsen, K.C., Risch, N.J., Brown, D.L., Trugman, J.M., et al., 1993, Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q. Nature Genetics 5: 386–391.PubMedCrossRefGoogle Scholar
  21. Okada, A., Nakamura, K., Snow, B.J., Bhatt, M.H., Nomoto, M., Osarne, M. and Calne, D.B., 1993, in: PET scan study on the dopaminergic system in a Japanese patient with hereditary progressive dystonia (Segawa’s disease): Case report in: Advances in Neurology, Volume 60, (H. Narabayashi, T. Nagatsu, N. Yanagisawa, and Y. Mizuno, eds) Raven Press, New York, pp 591–594.Google Scholar
  22. Phillips, A.G., presented at the 3rd International Basal Ganglia Society Meeting, Gagliari, Italy, 1989.Google Scholar
  23. Rajput, A.H., Gibb, W.R.G., Zhong, X.H., Shannak, K. S, Kish, S., Chang, L.G. and Hornykiewicz, O., 1994, Dopa-responsive dystonia: pathological and biochemical observations in one case, Ann. Neurol. 35:396–402.PubMedCrossRefGoogle Scholar
  24. Rothwell, J.C. and Obeso, J. A., 1988, The anatomical and physiological basis of torsion dystonia, in: Movement Disorders, Neurology 2, (C.D. Marsden, F. Fahn eds) Butterworth, London, pp 367–376.Google Scholar
  25. Segawa, M., 1981, Hereditary progressive dystonia with marked diurnal fluctuation (HPD). Adv. Neurol. Sci. (Tokyo) 25:73–81.Google Scholar
  26. Segawa, M. and Nomura, Y., 1991, Rapid eye movements during stage REM are modulated by nigrostriatal dopamine (NS-DA) neuron? in: The Basal Ganglia III. (G. Bernardi, M.B. Carpenter, G. Di Chiara, M. Morelli, and P. Stanzione eds.), Plenum Press, New York, pp 663–671.CrossRefGoogle Scholar
  27. Segawa, M. and Nomura, Y., 1993, Hereditary progressive dystonia with marked diurnal fluctuation: Pathophysiological importance of the age of Onset; in Advances in Neurology, Volume 60 (H. Narabayashi, T. Nagatsu, N. Yanagisawa, and Y. Mizuno, eds). Raven Press, New York, pp 568–576.Google Scholar
  28. Segawa, M. and Nomura, Y., 1995, Hereditary progressive dystonia with marked diurnal fluctuation and dopa-responsive dystonia: Pathognomonic clinical features, in: Age-Related Dopamine-Dependent Disorders, Monogr Neural Sci., Volume 14 (Segawa M. and Nomura Y. eds.) Karger, Basel, pp. 10–24.Google Scholar
  29. Segawa, M., Nomura, Y. and Kase M., 1986, Diurnally fluctuating hereditary progressive dystonia, in: Handbook of Clinical Neurology: Extrapyramidal disorders Volume 5 (49) (P.J. Vinken and G.W. Bruyn, eds.) Elsevier, Amsterdam, pp. 529–539.Google Scholar
  30. Segawa, M., Hosaka, A., Miyagawa, F., Nomura, Y. and Imai, H, 1976, Hereditary progressive dystonia with marked diurnal fluctuation, in: Advances in Neurology, Volume. 14 (R. Eldridge and S. Fahn eds), Raven Press, New York, pp 215–233.Google Scholar
  31. Segawa, M., Nomura Y., Hikosaka, O., Soda, M., Usui, S. and Kase M., 1987, Roles of the basal ganglia and related structures in symptoms of dystonia, in: The Basal Ganglia II, (M.B. Carpenter and A. Jayaraman, eds) Plenum Publishing Corp., New York, pp.489–504.CrossRefGoogle Scholar
  32. Segawa, M., Nomura Y., Tanaka S. Hakamada, S., Nagata, E., Soda, M., and Kase, M., 1988, Hereditary progressive dystonia with marked diurnal fluctuation: Consideration on its pathophysiology based on the characteristics of clinical and polysomnographical findings, in: Advances in Neurology, Volume 50, (S. Fahn, C.D. Marsden, and D.B. Calne, eds.), Raven Press, New York, pp 367–376.Google Scholar
  33. Shima, F. Imai H. and Segawa M., 1974, Polygraphic study on body movements during sleep in cases with involuntary movements, Clin. Electroencephalogr. (Tokyo), 16:229–235.Google Scholar
  34. Shima, F., Sakata, S., Sun, S.-J., Kato M., Fukui, M., Iacono, R.P., 1995, The role of the descending pallido-reticular pathway in movement disorders, in: Age-Related Dopamine-Dependent Disorders, Monogr Neural Sci., Vol. 14. (M. Segawa, Y. Nomura, eds.) Basel, Karger, pp. 197–207.Google Scholar
  35. Snow, B.J., Okada, A., Martin, W.R.W., Duvoisin, R.C. and Calne, D.B., 1993, Positron-emission tomography scanning in dopa-responsive dystonia, parkinsonism-dystonia, and young-onset parkinsonism, in: Hereditary Progressive Dystonia with Marked Diurnal Fluctuation, (M. Segawa, ed.), Parthenon, Carnforth, UK, pp. 181–186.Google Scholar
  36. Tanaka, H., Endo, K., Tsuji, S., Nygaard, T.G., Weeks, D.E., Nomura, Y. and Segawa, M., 1995, The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q. Ann. Neurol. 37:405–408.CrossRefGoogle Scholar
  37. Tsuji, S., Tanaka, H., Miyatake, T., Ginns, E.I., Nomura, Y. and Segawa, M., 1993, Linkage analysis of hereditary progressive dystonia to the tyrosine hydroxylase gene locus, in: Hereditary Progressive Dystonia with Marked Diurnal Fluctuation., (M. Segawa, ed.) Parthenon, Carnforth. UK, pp. 107–114.Google Scholar
  38. Van der Kooy, D., Fishell, G., Krushel, L.A. and Johnston, J.G., 1987, The development of striatal compartments — from proliferation to patches, in: Basal Ganglia II-Structure and Function, (MB Carpenter, A. Jayaraman, eds.) Plenum, New York, pp. 81–98.CrossRefGoogle Scholar
  39. Yamamura, Y., Hamaguchi, Y., Uchida, M., Fujioka, H., and Watanabe, S., 1993, Parkinsonism of early-onset with diurnal fluctuation, in: Hereditary Progressive Dystonia with Marked Diurnal Fluctuation, (M. Segawa, ed) Parthenon, Carnforth, UK, pp. 51–59.Google Scholar
  40. Yokochi, M., 1979, Juvenile parkinson’s disease-Part I, clinical aspects, Adv.Neurol. Sci. (Tokyo) 23:1060–1073.Google Scholar
  41. Yokochi, M., 1995, Juvenile parkinsonism and other dopa-responsive syndromes, in: Age-Related Dopamine-Dependent Disorders, Monogr Neural Sci., Volume 14 (M. Segawa and Y. Nomura, eds.) Karger, Basel, pp. 25–35.Google Scholar
  42. Yokochi, M., Narabayashi, H., Izuka, R., and Nagatsu, T, 1984, Juvenile parkinsonism — some clinical, pharmacological and neuropathological aspects, in: Advances in Neurology, Volume 40 (R.G. Hassler and J.F. Christ, eds). Raven Press, New York, pp. 407–413.Google Scholar

Copyright information

© Springer Science+Business Media New York 1996

Authors and Affiliations

  • M. Segawa
    • 1
  • Y. Nomura
    • 1
  • R. Tanaka
    • 1
  • T. Tanaka
    • 1
  • Y. Shitaka
    • 1
  • F. Okada
    • 1
  • N. Nishiyama
    • 1
  • H. Fukuda
    • 1
    • 2
  • O. Hikosaka
    • 3
  1. 1.Segawa Neurological Clinic for ChildrenTokyoJapan
  2. 2.National Institute of Industrial HealthKawasakiJapan
  3. 3.Juntendo University School of MedicineTokyoJapan

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