The GTP-cyclohydrolase I gene in atypical Parkinsonian patients: A clinico-genetic study

Journal of the Neurological Sciences

Volumn 141, Issue 1-2, 1996, Pages 27-32

  Bandmann, Oliver ^a   Daniel, Sue ^a   Marsden, C David ^a   Wood, Nicholas W ^a   Harding, Anita E ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; HUMAN; HUMAN TISSUE; MALE; MUTATION; PARKINSON DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0030587511     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/0022-510X(96)00098-6     Document Type: Article

References (47)

1. Armstrong, M., Daly, A.K., Cholerton, S. et al. (1992) Mutant debrisoquine hydroxylation genes in Parkinson's disease. Lancet, 339: 1017-1018.
2. Bandmann, O., Davis, M., Marsden, C.D. and Harding, A.E. (1995) Sequence of the Superoxide dismutase (SOD1) gene in familial Parkinson's disease. J. Neurol. Neurosurg. Psychiatry, 59: 90-91.
3. Bandmann, O., Nygaard T., Marsden, C.D., Wood, N.W. and Harding, A.E. (1996) Dopa-responsive dystonia in British patients: New mutations of the GTP cyclohydrolase gene and evidence for genetic heterogeneity. Hum. Mol. Gen., in press.
4. Bhatia, K.P., Daniel, S.E. and Marsden, C.D. (1993) Familial parkinsonism with depression: a clinicopathological study. Ann. Neurol., 34: 842-847.
5. 18F-dopa uptake in Parkinson's disease, multiple system atrophy, and progressive supranuclear palsy. Ann. Neurol., 28: 547-555.
6. Duvoisin, R.C. and Golbe, L.I. (1995) Kindreds of dominantly inherited Parkinson's disease: Keys to the riddle. Ann Neurol., 38: 355-356.
7. Fink, J.K., Barton, N., Cohen, W. et al. (1988) Dystonia with marked diurnal fluctuation associated with biopterin deficiency. Neurology, 38, 707-711.
8. Gasser, T., Wszolek, Z.K., Trofatter, J. et al. (1994) Genetic linkage studies in autosomal dominant parkinsonism: evaluation of seven candidate genes. Ann. Neurol., 36: 387-396.
9. Gibb, W.R.G. and Lees, A.J. (1994) Pathological clues to the cause of Parkinson's disease. In: Marsden, C.D. and Fahn, S. (eds) Movement Disorders 3. London: Butterworth Heinemann, p147-166.
10. Golbe, L.I., Di lorio, G., Lazzarini, A.M. et al. (1990) A large kindred with autosomal dominant Parkinson's disease. Ann. Neurol., 27: 276-282.
11. Hughes, A.J., Daniel, S.E., Kilford, L. et al. (1992) Accuracy of clinical diagnosis of idiopathic Parkinson's disease - a clinico-pathological study of 100 cases. J. Neurol. Neurosurg. Psychiatry, 55: 181-184.
12. Hughes, A.J., Daniel, S.E., Blankson, S. et al. (1993) A clinicopathologic study of 100 cases of Parkinson's disease. Arch. Neurol., 50: 140-148.
13. Ichinose, H., Ohye, T., Takahashi, E., et al. (1994) Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nature Genet., 8: 236-241.
14. Ichinose, H., Ohnye, T., Matsuda, Y. et al. (1995) Characterization of mouse and human GTP cyclohydrolase I genes. J. Biol. Chem., 270: 10062-10071.
15. Kaufman, S. (1959) Studies on the mechanism of the enzymatic conversion of phenylalanine to tyrosine. J. Biol. Chem., 234: 2677-2682.
16. Kawaguchi, Y., Okamoto, T., Taniwaki, M. et al. (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet., 8: 221-228.
17. Knappskog, P.M., Flatmark, T., Mallet, J. et al. (1995) Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum. Mol. Genet., 4: 1209-1212.
18. Lazzarini, A.M., Myers, R.H., Zimmermann, T.R. et al. (1994) A clinical genetic study of Parkinson's disease: evidence for dominant transmission. Neurology, 44: 499-506.
19. Lovenberg, W., Levine, R.A., Robinson, D.S. et al. (1979) Hydroxylase co-factor activity in cerebrospinal fluid of normal subjects and patients with Parkinson's disease. Science, 204: 624-626.
20. Lüdecke, B., Dworniczak, B. and Bartholome, K. (1995) A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum. Genet., 95: 123-125.
21. Maraganore, D.M., Harding, A.E. and Marsden, C.D. (1991) A clinical and genetic study of familial Parkinson's disease. Mov. Disord., 6: 205-211.
22. Markopoulou, K., Wszolek, Z.K. and Pfeiffer, R.F. (1995) A Greek-American kindred with autosomal dominant levodopa-responsive parkinsonism and anticipation. Ann. Neurol., 38: 373-378.
23. Marsden, C.D. and Parkes, J.D. (1976) 'On-off effects in patients with Parkinson's disease on chronic levodopa therapy. Lancet, i: 292-296.
24. Marsden, C.D. (1994) Parkinson's disease. J. Neurol. Neurosurg. Psychiatry, 57: 672-681.
25. Nagatsu, T., Levitt, M. and Udenfriend, S. (1964) Tyrosine hydroxylase: the initial step in norepinephrine biosynthesis. J. Biol. Chem., 239: 2910-2917.
26. Nygaard, T.G., Marsden, C.D. and Duvoisin, RC. (1988) Dopa-responsive dystonia. Adv. Neurol., 50: 377-384.
27. Nygaard, T.G., Trugman, J.M., Yebenes, J.G. et al. (1990) Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family. Neurology, 40: 66-69.
28. Nygaard, T.G., Marsden. C.D. and Fahn, S. (1991) Dopa-responsive dystonia: long-term treatment response and prognosis. Neurology, 41: 174-181.
29. Nygaard, T.G., Takahashi, H., Heiman, G.A. et al. (1992) Long-term treatment response and fluordopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia. Ann. Neurol., 32: 603-608.
30. Nygaard, T.G. (1993) An analysis of North American families with dopa-responsive dystonia. In: Segawa M, ed. Hereditary progressive dystonia. London: Parthenon Publishing, p97-106.
31. Perry, T.L., Bratty, P.J.A., Hansen, S. et al. (1975) Hereditary mental depression and parkinsonism with taurine deficiency. Arch. Neurol., 32: 108-113.
32. Plante-Bordeneuve, V., Davis, M.B., Maraganore, D.M. et al. (1994) Tyrosine hydroxylase polymorphism in familial and sporadic Parkinson's disease. Mov. Disord., 9: 337-339.
33. Plante-Bordeneuve, V., Bandmann, O., Wenning, G. et al. (1995) CYP2D6-debrisoquine hydroxylase polymorphism in multiple system atrophy. Mov. Disord., 10: 277-278.
34. Poewe, W.H., Lees, A.J. and Stern, G.M. (1986) Low-dose L-dopa therapy in Parkinson's disease: a 6-year follow-up study. Neurology, 36: 1528-1530.
35. Poewe, W.H., Lees, A.J. and Stern, G.M. (1988) Dystonia in Parkinson's disease: clinical and pharmacological features. Ann. Neurol., 23: 73-78.
36. Purdy, A., Hahn, A., Barnett, H.J.M. et al. (1979) Familial fatal parkinsonism with alveolar hypoventilation and mental depression. Ann. Neurol., 6: 523-531.
37. Quinn, N. (1995) Drug treatment of Parkinson's disease. BMJ, 310: 575-579.
38. Rajput, A.H., Gibb, W.R.G., Zhong, X.H. et al. (1993) Dopa-responsive dystonia: pathological and biochemical observations in a case. Ann. Neurol., 35: 396-402.
39. Roy, E.P., Riggs, J.E., Martin, J.D. et al. (1988) Familial parkinsonism, apathy, weight loss, and central hypoventilation: successful long-term management. Neurology, 38: 637-639.
40. Schoenberg, B.S., Anderson, D.W. and Haerer, A.F. (1985) Prevalence of Parkinson's disease in the biracial population of Copiah County, Mississippi. Neurology, 35: 841-845.
41. Smith, C.A.D., Gough, A.C., Leigh, P.N. et al. (1992) Association between the CYP2D6-debrisoquine hydroxylase polymorphism and susceptibility to Parkinson's disease. Lancet, 339: 1375-1377.
42. Tanaka, H., Ishikawa, A., Ginns, E.I. et al. (1991) Linkage analysis of juvenile parkinsonism to tyrosine hydroxylase gene locus on chromosome 11. Neurology, 41: 719-722.
43. Tuite, P.J., Rogaeva, E.A., St George-Hyslop, P.H. et al. (1995) Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: confirmation of 14q expansion. Ann. Neurol., 38: 684-687.
44. Turjanski, N., Bhatia, K., Burn, D.J. et al. (1993) Comparison of striatal 18F-dopa uptake in adult-onset dystonia-parkinsonism, Parkinson's disease, and dopa-responsive dystonia. Neurology, 43: 1563-1568.
45. Williams, A.C., Eldrige, R., Levine, R. et al. (1979) Low CSF hydroxylase co-factor (tetrahydrobiopterin) levels in inherited dystonia. Lancet, ii: 410-411.
46. Williams, A.C., Levine, R.A., Chase, T.N. et al. (1980) CSF hydroxylase cofactor levels in some neurological diseases. J. Neurol. Neurosurg. Psychiatry, 43: 735-738.
47. Wszolek, Z.K., Cordes, M., Calne, D.B. et al. (1994) Hereditaerer Morbus Parkinson: Bericht ueber drei Familien mit autosomal-dominantem Erbgang. Nervenarzt, 64: 331-335.