Hereditary progressive dystonia with marked diurnal fluctuation

Brain and Development

Volumn 22, Issue SUPPL. 1, 2000, Pages 65-80

  Segawa, Masaya ^a  

^a Segawa Neurological Clinic for Children   (Japan)

Author keywords

Dopa responsive dystonia; Guanosine triphosphate cyclohydrolase I; Hereditary progressive dystonia with marked diurnal fluctuation; Tetrahydrobiopterin; Tyrosine hydroxylase

Indexed keywords

DOPAMINE; DOPAMINE 2 RECEPTOR; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; TETRAHYDROBIOPTERIN; TYROSINE 3 MONOOXYGENASE;

CIRCADIAN RHYTHM; CONFERENCE PAPER; DISEASE COURSE; DYSTONIA; ENZYME DEFECT; GENE LOCATION; HETEROZYGOSITY; HISTOCHEMISTRY; HUMAN; NERVE ENDING; NIGRONEOSTRIATAL SYSTEM; PATHOPHYSIOLOGY; SACCADIC EYE MOVEMENT; SEGAWA DISEASE; THALAMUS; TREMOR;

EID: 0033839129     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0387-7604(00)00148-0     Document Type: Conference Paper

References (103)

1. Segawa M., Ohmi K., Itoh S., Aoyama M., Hayakawa H. Childhood basal ganglia disease with remarkable response to L-Dopa. 'hereditary basal ganglia disease with marked diurnal fluctuation'. Shinryo (Tokyo). 24:1971;667-672. [in Japanese].
2. Segawa M., Hosaka A., Miyagawa F., Nomura Y., Imai H. Hereditary progressive dystonia with marked diurnal fluctuation. Eldridge R., Fahn S. Advances in neurology. 1976;215-233 Raven Press, New York.
3. Segawa M. Hereditary progressive dystonia with marked diurnal fluctuation (HPD). Adv Neurol Sci (Tokyo). 25:1981;73-81. [in Japanese].
4. Deonna T. Dopa-sensitive progressive dystonia of childhood with fluctuations of symptoms-Segawa's syndrome and possible variants. Neuropediatrics. 17:1986;75-80.
5. Nygaard T.G., Marsden C.D., Duvoisin R.C. Dopa responsive dystonia. Fahn S., Marsden C.D., Calne D.B. Advances in neurology. 1988;377-384 Raven Press, New York.
6. Lüdecke B., Dworniczak B., Bartholome K. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum Genet. 95:1995;123-125.
7. Nygaard T.G., Snow B.J., Fahn S., Calne D.B. Dopa-responsive dystonia clinical characteristics and definition. Segawa M. Hereditary progressive dystonia with marked diurnal fluctuation. 1993;21-35 Parthenon, Carnforth, UK.
8. Calne D.B. Dopa-responsive dystonia. Ann Neurol. 35:1994;381-382.
9. Nomura Y., Segawa M. Intrafamilial and interfamilial variations of symptoms of Japanese hereditary progressive dystonia with marked diurnal fluctuation. Segawa M. Hereditary progressive dystonia with marked diurnal fluctuation. 1993;73-96 Parthenon, Carnforth, UK.
10. Segawa M., Nomura Y., Kase M. Herediatry progressive dystonia with marked diurnal fluctuation: clinicopathologocal identification in reference to juvenile Parkinson's disease. Yahr M.D., Bergmann K.J. Advances in neurology. 1986;227-238 Raven Press, New York.
11. Segawa M., Nomura Y., Kase M. Diurnally fluctuating hereditary progressive dystonia. Vinken P.J., Bruyn G.W. of clinical neurology. Extrapyramidal disorders. 1986;529-539 Elsevier, Amsterdam.
12. Rajput A.H., Gibb W.R.G., Zhong X.H., Shannak K.S., Kish S., Chang L.G., et al. Dopa-responsive dystonia: pathological and biochemical observations in one case. Ann Neurol. 35:1994;396-402.
13. Hornykiewicz O. Striatal dopamine in dopa-responsive dystonia. Comparison, with idiopathic Parkinson's disease and other dopamine-dependent disorders. Segawa M., Nomura Y. Age-related dopamine-dependent disorders. Monographs in neural science. 1995;101-108 Basel: Karger.
14. Fletcher N.A., Holt I.J., Harding A.E., Nygaard T.G., Mallet J., Marsden C.D. Tyrosine hydroxylase and levodopa responsive dystonia. J Neurol Neurosurg Psychiatry. 52:1989;112-144.
15. Tsuji S., Tanaka H., Miyatake T., Ginns E.I., Nomura Y., Segawa M. Linkage analysis of hereditary progressive dystonia to the tyrosine hydroxylase gene locus. Segawa M. Hereditary progressive dystonia with marked diurnal fluctuation. 1993;107-114 Carnforth, UK, Parthenon.
16. Fujita S., Shintaku H. Etiology and pteridin metabolism abnormality of hereditary progressive dystonia with marked diurnal fluctuation (HPD: Segawa disease). Med J Kushiro City Hosp. 2:1990;64-67. [in Japanese].
17. Furukawa Y., Nishi K., Kondo T., Mizuno Y., Narabayashi H., et al. CSF biopterin levels and clinical features of patients with juvenile parkinsonism. Mizuni Y., Narabayashi H., Nagatsu T., Yanagisawa N. Advances in neurology. 1993;562-567 Raven Press, New York.
18. Nygaard T.G., Wihelmsen K.C., Risch N.J., Brown D.L., Trugman J.M., Gilliam T.C., et al. Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q. Nat Genet. 5:1993;386-391.
19. Endo K., Tanaka H., Saito M., Tsuj S., Nygaard T.G., Weeks D.E., et al. The gene for hereditary progressive dystonia with marked diurnal fluctuation (HPD) maps to chromosome 14q. Segawa M., Nomura Y. Age-related dopamine-dependent disorders. Monographs in neural sciences. 1995;120-125 Basel: Karger.
20. Tanaka H., Endo K., Tsuji S., Nygaard T.G., Weeks D.E., Nomura Y., et al. The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q. Ann Neurol. 37:1995;405-408.
21. Ichinose H., Ohye T., Takahashi E., Seki N., Hori T., Segawa M., et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet. 8:1994;236-242.
22. Yokochi M. Juvenile Parkinson's disease - part I. Clinical aspects. Adv Neurol Sci (Tokyo). 23:1979;1060-1073. [in Japanese].
23. Yamamura Y., Sobue I., Ando K., Iida M., Yanagi T., Kono C. Paralysis agitans of early onset with marked diurnal fluctuation of symptoms. Neurology. 23:1973;239-244.
24. Yamamura Y., Hamaguchi Y., Uchida M., Fujioka H., Watanabe S. Parkinsonism of early-onset with diurnal fluctuation. Segawa M. progressive dystonia with marked diurnal fluctuation. 1993;51-59 Parthenon, Carnforth UK.
25. Matsumine M., Saito M., Shimoda-Matsubayashi S., Tanaka H., Ishikawa A., Nakagawa-Hattori Y., et al. Localization of a gene for an autosomal recessive form of juvenile parkinsonism to chromosome 6q25.2-27. Am J Hum Genet. 60:1997;588-596.
26. Kitada T., Asakawa S., Hattori N., Matsumine H., Yamamura Y., Minoshima S., et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature. 392:1998;605-608.
27. Segawa M., Yukishita S., Kakimoto S., Hagiwara H., Nishiyama N., Nomura Y. Novol and de novo GTP-cyclohydrolase I gene mutations in hereditary progressive dystonia with marked diurnal fluctuation (HPD). Mov Disord. 13:(Suppl 2):1998;163.
28. Steinberger D., Weber Y., Korinthenberg R., Deuschl G., Benecke R., Martinius J., et al. High penetrance and pronounced variation in expressivity of GCH 1 Mutations in five families with dopa-responsive dystonia. Ann Neurol. 43:1998;634-639.
29. Furukawa Y., Lang A.E., Trugman J.M., Bird T.D., Hunter A., Sadeh M., et al. Gender-related penetrance and de novo GTP cyclohydrolase I gene mutations in dopa-responsive dystonia. Neurology. 50:1998;1015-1020.
30. 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. 39:1997;49-53.
31. Bandmann O., Valente E.M., Holmans P., Surtees R.A.H., Walters J.H., Wevers R.A., et al. Dopa-responsive dystonia. A clinical and molecular genetic study. Ann Neurol. 44:1998;649-656.
32. Segawa M., Nomura Y., Takita K., Narabayashi H. Pallidotomy and thalamotomy on a case with hereditary progressive dystonia with marked diurnal fluctuation. Mov Disord. 13:(Suppl 2):1998;165. [Abstract].
33. Furukawa Y., Kish S.J., Bebin E.M., Jacobson R.D., Fryburg J.S., Wilson W.G., et al. Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. Ann Neurol. 44:1998;10-16.
34. Segawa M., Nomura Y., Yamashita S., Kase M., Nishiyama N., Yukishita S., Ohta H., Nagata K., Hosaka K., et al. Long term effects of L-Dopa on hereditary progressive dystonia with marked diurnal fluctuation. Berardelli S., Benecke R., Manfredi M., Marsden C.D. Motor disturbance. 1990;305-318 Academic Press, London.
35. Nygaard T.G., Marsden C.D., Fahn S. Dopa-responsive dystonia: long term treatment, response and progonosis. Neurology. 41:1991;174-181.
36. Ochi T., Nihei K., Nomura Y., Segawa M., Suzuki Y., Ariga M., et al. Two patients with Segawa disease which need levodopa-carbidopa for complete recovery. No to Hattatsu. 31:1999;. 164[Abstract]-21 [in Japanese].
37. Nomura K., Negoro T., Takesu E., Aso K., Furune S., Takahashi I., et al. Bromocriptine therapy in a case of hereditary progressive dystonia with marked diurnal fluctuation. Brain Dev. 9:1987;199. [Abstract].
38. Kase M. Pitfalls in neurological disorders. Jpn Med J. 2850:1987;3-11. [in Japanese].
39. Nomura Y., Kase M., Igawa C., Segawa M. A female case of hereditary progessive dystonia with marked diurnal fluctuation with favorable response to anticholinergic drugs for 25 years. Clin Neurol (Tokyo). 22:1984;723. [Abstract, in Japanese].
40. Jarman P.R., Bandmann O., Marsden C.D., Wood N.W. GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs. J Neurol Neurosurg Psychiatry. 63:1997;304-308.
41. Ishida A., Takada G., Kobayashi Y., Higashi O., Toyoshima I., Takai K. Involvement of serotonergic neurons in hereditary progressive dystonia: clinical effects of tetrahydrobiopterin and 5-hydroxytryptophan. No-To-Hattatsu (Tokyo). 20:1988;195-199. [in Japanese].
42. Ibi T., Sahashi K., Watanabe K., Morishima T., Mitsuma T., Fujishiro K., et al. Progressive dystonia with marked diurnal fluctuation and tetrahydrobiopterin therapy. Neurol Ther (Tokyo). 8:1991;71-75. [in Japanese].
43. Takahashi H., Levine R.A., Galloway M.P., Snow B.J., Calne D.B., Nygaard T.B. Biochemical and fluorodopa positron emission tomographic findings in an asymptomatic carrier of the gene for dopa-responsive dystonia. Ann Neurol. 35:1994;354-356.
44. Ichinose H., Ohye T., Segawa M., Nomura Y., Endo K., Tanaka H., et al. GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. Neurosci Lett. 196:1995;5-6.
45. Bezin L., Nygaard T.G., Neville J.D., Shen H., Levine R.A. Reduced lymphoblast neopterin detects GTP cyclohydrolase dysfunction in dopa-responsive dystonia. Neurology. 50:1988;1021-1027.
46. Hyland K., Fryburg J.S., Wilson W.G. Oral phenylalanine loading in dopa responsive dystonia; a possible diagnostic test. Neurology. 48:1997;1290-1297.
47. Snow B.J., Okada A., Martin W.R.W., Duvoisin R.C., Calne D.B. Positron-emission tomography scanning in dopa-responsive dystonia, parkinsonism-dystonia, and young-onset parkinsonism. Segawa M. Hereditary progressive dystonia with marked diurnal fluctuation. 1993;181-186 Parthenon, Carnforth, UK.
48. Sawle G.V., Lenders K.L., Brooks D.J., Harwood G., Lee A.J., Frackowiak R.S.J., et al. Dopa-responsive dystonia: [F-18] dopa positron emission tomography. Ann Neurol. 30:1991;24-30.
49. Leenders K.L., Antonini A., Meinck H.-M., Weindl A. A. Striatal dopamine D2 receptors in dopa-responsive dystonia and Parkinson's disease. Segawa M., Nomura Y. Age-related dopamine-dependent disorders. Monographs in neural sciences. 1995;95-100 Basel: Karger.
50. Kunig G., Leenders K.L., Antonini A., Vontobel P., Weindl A., Meinck H.M. D2 receptor binding in dopa-responsive dystonia. Ann Neurol. 44:1998;758-762.
51. 11C]-raclopride and positron-emission tomography. Neurology. 50:1998;1028-1032.
52. 123I] beta-CIT single -photon emission computed tomography is normal in dopa-responsive dystonia. Ann Neurol. 43:1998;792-800.
53. Segawa M., Nomura Y., Tanaka S., Hakamada S., Nagata E., Soda E., et al. Hereditary progressive dystonia with marked diurnal fluctuation. Consideration on its pathophysiology based on the characteristics of clinical and polysomnographical findings. Fahn S., Marsden C.D., Calne D.B. Advances in neurology. 1988;367-376 Raven Press, New York.
54. Segawa M., Nomura Y., et al. Hereditary progressive dystonia with marled diurnal fluctuation. Pathophysiological importance of the age of onset. Narabayashi H., Nagatsu T., Yanagisawa N., Mizuno Y. Advances in neurology. 1993;568-576 Raven Press, New York.
55. Segawa M., Nomura Y. Hereditary progressive dystonia with marked diurnal fluctuation. Segawa M. Hereditary progressive dystonia with marked diurnal fluctuation. 1993;3-19 Parthenon, Carnforth, UK.
56. McGeer E.G., McGeer P.L. Some characteristics of brain tyrosine hydroxylase. Mandel J. New concepts in neurotransmitter regulation. 1973;53-68 Plenum Press, New York.
57. Hikosaka O., Fukuda H., Kato M., Uetake K., Nomura Y., Segawa M. Deficits in saccadic eye movements in hereditary progressive dystonia with marked diurnal fluctuation. Segawa M. Hereditary progressive dystonia with marked diurnal fluctuation. 1993;159-177 Parthenon, Carnforth, UK.
58. Segawa M., Hikosaka O., Fukuda H., Uetake K., Nomura Y. Deficit in saccadic eye movements in basal ganglia disorders. Percheron G., Mckenzie J.S., Féger J. The basal ganglia. 1994;525-531 Plenum Press, New York.
59. Segawa M., Tanaka R., Nomura Y., Fukuda H., Hikosaka O. Saccadic eye movements in basal ganglia disorders. Kimura J., Shibsaki H. Recent advances in clinical neurophysiology. 1996;170-176 Elsevier, Amsterdam.
60. Furukawa Y., Shimadzu M., Rajput A.H., Shimizu Y., Tagawa T., Mori H., et al. GTP-cyclohydrolase I gene mutations in hereditary progressive and dopa responsive dystonia. Ann Neurol. 39:1996;609-617.
61. Furukawa Y., Shimadzu M., Hornykiewicz O., Kish S.J. Molecular and biochemical aspects of hereditary progressive and dopa-responsive dystonia. Fahn S., Marsden C.D., DeLong M.R. Dystonia 3. Advances in neurology. 1998;267-282 Lippincott-Raven, Philadelphia, PA.
62. Hirano M., Tamura Y., Nagai Y., Ito H., Imai T., Ueno S. Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia/dopa responsive dystonia. Biochem Biophys Res Commun. 213:1995;645-651.
63. Hirano M., Yanagihara T., Ueno S. Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia. Ann Neurol. 44:1998;365-371.
64. Ozelius L.J., Hewett J., Page C.E., Bressman S.B., Kramer P.L., Shalish C., et al. The early-onset torsion dystonia gene (DYT-1) encodes an ATP-finding protein. Nat Genet. 17:1997;40-48.
65. Augood S.J., Penny J.B., Friberg I.K., Breakefield X.O., Young A.B., Ozelius L.J., et al. Expression of the early onset torsion dystonia gene (DYT1) in human brain. Ann Neurol. 43:1998;669-673.
66. Segawa M., Nomura Y. Rapid eye movements during stage REM are modulated by nigrostriatal dopamine neurons? Bernardi G., Carpenter M.B., Di Chiara G., Morelli M., Stanzione P. The basal ganglia. 1991;663-671 Plenum Press, New York.
67. Segawa M., Nomura Y., Hikosaka O., Soda M., Usui S., Kase M. Roles of the basal ganglia and related structure in symptoms of dystonia. Carpenter M.B., Jayaraman A. The basal ganglia. 1987;489-504 Plenum Press, New York.
68. Nomura Y., Uetake K., Yukishita S., Hagiwara H., Tanaka T., Tanaka R. Dystonias responding to levodopa and failure in biopterin metabolism. Fahn S., Marsden C.D., DeLong M.R. Dystonia 3. Advances in neurology. 1998;253-266 Lippincott-Raven, Philadelphia, PA.
69. Bartholome K., Lüdecke B. Mutations in the tyrosine hydroxylase gene cause various forms of L-dopa-responsive dystonia. Adv Phamacol. 42:1998;48-49.
70. Neiderwieser A., Blau N., Wang M., Joller P., Atarés M., Cardesa-Garcia J. GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin dopamine, and serotonin deficiencies and muscular hypotonia. Eur J Pediatr. 141:1984;208-214.
71. Van den Heuvel L.P., Smeitink B.L.J., de-Rijk van Andel Keith Hyland J.F., Jansen S.S.R., Wevers R.S. A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population. Hum Genet. 102:1998;644-646.
72. Yokochi M., Narabayashi H., Izuka R., Nagatsu T. Juvenile parkinsonism - some clinical, pharmacological and neuropathological aspects. Hassler R.G., Christ J.F. Advances in neurology. 1984;407-413 Raven Press, New York.
73. Gibb W.R.G., Narabayashi H., Yokochi M., Iizuka R., Lees A.J. New pathologic observations in juvenile onset parkinsonism with dystonia. Neurology. 41:1991;820-822.
74. Yamamura Y., Hamaguchi Y., Uchida M., Fujioka H., Watanabe S. Parkinsonism of early-onset with diurnal fluctuation. Segawa M. Hereditary progressive dystonia with marked diurnal fluctuation. 1993;51-59 Parthenon, Carnforth, UK.
75. Yokochi M. Clinicopathological identification of juvenile parkinsonism in reference to dopa-responsive disorders. Segawa M. Hereditary progressive dystonia with marked diurnal fluctuation. 1993;37-48 Parthenon, Carnforth, UK.
76. Kondo T., Mori H., Sugita Y., Mizuno Y., Mizutani Y., Yokochi M. Juvenile parkinsonian: a clinical, neuropathological and biochemical study. Mov Disord. 12:(Suppl 1):1997;32. [Abstract].
77. Phillips A.G. Paper Presented at the 3rd International Basal Ganglia Society Meeting. 1989.
78. Steinfels G.F., Heym J., Strecker R.E., Jacobs B.L. Behavioural correlates of dopaminergic unit activity in freely moving cats. Brain Res. 258:1983;217-228.
79. Nomoto M., Iwata S., Kaseda S., Fukada T., Nakagawa S. Increased dopamine turnover in the putamen after MPTP treatment in common marmosets. Brain Res. 767:1997;235-238.
80. Burke R.E., Baimbridge K.G. Relative loss of the striatal stirosome compartment, defined by calbin-din-D28k immunostanding, following developmental hypoxic-ischemic injury. Neuroscience. 56:1993;305-315.
81. Graybiel A.M., Ragsdale C.W. Jr. Histochemically distinct compartments in the striatum of human, monkey and cat demonstrated by acetylthiocholinesterase staining. Proc Natl Acad Sci. 75:1978;5723-5726.
82. Gibb W.R.G. Selective pathology, disease pathogenesis and function in the basal ganglia. Kimura J., Shibasaki H. Recent advances in clinical Neurophysiology. 1996;1009-1015 Elsevier, Amsterdam.
83. Crossman A.R. A hypothesis on the pathophysiological mechanisms that underlie levodopa or dopamine agonist induced dyskinesia in Parkinson's disease Implications for future strategies in treatment. Mov Disord. 5:1990;100-108.
84. Crossman A.R. Animal models of movement disorders. Paper presented at the First International Congress on Movement Disorders. Apr 1990.
85. Sambrook M.A., Crossman A.R., Mitchell I.J. Experimental models of basal ganglia disease. Marsden C.D., Fahn S. Movement disorders 3. 1994;29-45 Butterworth-Heinemann, Oxford.
86. Mitchell I.J., Luquin R., Boyce S., Clarke C.E., Robertson R.G., Sambrook M.A., et al. Neural mechanisms of dystonia evidence from a 2-deoxyglucose uptake study in a primate model of dopamine agonist-induced dystonia. Mov Disord. 5:1990;49-54.
87. Segawa M., Nomura Y., Tanaka R., Tanaka T., Shitaka Y., Okada Y. GTP-cyclohydrolase I in inherited dystonia and its pathophysiological importance. Ohye C., Kimura M., Mckenzie J.S. The basal ganglia. 1995;459-468 Plenum Press, New York, London.
88. Ceballos-Baumann A.O., Brooks D.J. Activation Position Emission tomograhy scanning in dystonia London. Fahn S., Marsden C.D., DeLong M.R. Dystonia 3. Advances in neurology. 1998;135-152 Lippincott-Raven, Philadelphia, PA.
89. Byl N.N., Merzenich M.M., Jenkins W.M. Aprimate genesis model of focal dystonia and repetitive strain injury : 1 learning-induced differentiation of the representation of the hand in the primary somotosensory cortex in the adult monkeys. Neurology. 41:1991;1449-1456.
90. Mori S., Matsuyama K., Kohyama J., Kobayashi Y., Takakushi K. Neuronal constituents of postural and locomotor control systems and their interaction in cats. Brain Dev. 14:(Suppl)):1992;S109-S120.
91. LeWitt P., Harvey J.A., Friedman E., Simansky K., Murphy H.E. New evidence for neurotransmitter influences on brain development. Trends Neurosci. 20:1997;269-274.
92. Nair V.D., Mishra R.K. Ontogenic development of dopamine D4 receptor in rat brain. Dev Brain Res. 90:1995;180-183.
93. Shintaku H. Early diagnosis of 6-pyruvoyl-tetrahydroptern synthase deficiency. Pteridines. 5:1994;18-27.
94. Reisert I., Pilgrim C. Sexual differentiation of monoaminergic neuron genetic epigenetic. Trends Neurosci. 14:1991;468-473.
95. Segawa M., Nomura Y. Hereditary progressive dystonia with marked diurnal fluctuation and dopa-responsive dystonia. Pathognomonic clinical features. Segawa M., Nomura Y. Age-related dopamine-dependent disorders. Monogr neural sci. 1995;10-24 Basel: Karger.
96. Shimura H., Hattori N., Kubo S., Yoshikawa M., Kitada T., Matsumine H. Immunohistochemical and subcellular localization of parkin protein: absence of protein in autosomal recessive juvenile parkinsonism patients. Ann Neurol. 45:1999;668-672.
97. Segawa M. Development of the nigrostrictal dopomine neuron and the pathways in the basal ganglia. Brain Dev. 22:(Suppl 1)):2000;1-4. [this issue].
98. Ichionose H., Inagakii N., Suzuki S., Ohye T., Nagatsu T. Molecular mechanisms of Hereditary Progressive Dystonia with marked diurnal fluctuation, Segawa's Disease. Brain Dev. 22:(Suppl 1)):2000;107-110. [this issue].
99. Nishiyama N., Yukishita S., Hagiwara H., Kakimoto S., Nomura Y., Segawa M. Gene mutation in hereditary progressive dystonia with marked diurnal fluctuation (HPO), strictly defined dopa-responsive dystonia. Brain Dev. 22:(Suppl 1)):2000;102-106. [this issue].
100. Ueno S., Hirano M. Missense mutants inactivate GTP cyclohydrolase I in hereditrary progressive dystonia with marked diurnal fluctuation. Brain Dev. 22:(Suppl 1)):2000;111-114. [this issue].
101. Nomura Y., Ikeuchi T., Tsuji H., Segawa M. Two phenotypes and anticipation observed in Japanese cases with Early Onset Torsion Dystonia (DYT1) - Pathophysiological consideration. Brain Dev. 22:(Suppl 1)):2000;92-101. [this issue].
102. Yokochi M. Development of the nosological analysis of juvenile parkinsonism. Brain Dev. 22:(Suppl 1)):2000;81-86. [this issue].
103. Yamomura Y., Hattori H., Matsumine H., Kuzuhara S., Mizuno Y. Autosomal recessive early-onset parkinsonism with diurnal fluctuation: cinicopathological charactaristics and molecular genetic identification. Brain Dev. 22:(Suppl 1)):2000;87-91. [this issue].