Recessive dopa-responsive dystonia due to mutation of the tyrosine-hydroxylase gene;Dystonie dopa-sensible forme récessive mutation du gène de la tyrosine-hydroxylase

Bulletin de l'Academie Nationale de Medecine

Volumn 183, Issue 3, 1999, Pages 639-647

  Rondot, Pierre ^a   Wevers, Ron A ^b  

^a Service de Neurologie   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DOPA; DOPAMINE RECEPTOR STIMULATING AGENT; TYROSINE 3 MONOOXYGENASE;

GENETICS; HUMAN; MUTATION; RECESSIVE GENE; REVIEW; TORSION DYSTONIA;

DIHYDROXYPHENYLALANINE; DOPAMINE AGENTS; DYSTONIA MUSCULORUM DEFORMANS; GENES, RECESSIVE; HUMANS; MUTATION; TYROSINE 3-MONOOXYGENASE;

EID: 0041408544     PISSN: 00014079     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (25)

1. MARSDEN C.D., HARRISSON M.J.G. - Idiopathic torsion dystonia (dystonia musculorum deformans). A review of forty-two patients. Brain, 1974, 97, 793-810.
2. WARNER T.T., FLETCHER N.A., DAVIS M.B., AHMAD F., CONWAY D., FEVE A., RONDOT P., MARSDEN C.D., HARDING A.E. - Linkage analysis in Britisch and French families with idiopathic torsion dystonia. Brain, 1993, 116, 739-744.
3. CASTAIGNE P., RONDOT P., RIBADEAU DUMAS J.L., SAID G. - Affection extrapyramidale évoluant chez deux frères : effets remarquables du traitement par la L-Dopa. Revue Neurol., 1971, 124, 162-166.
4. MAYMAN C.J., CULLEN R. - Salutary effect of L-Dopa on dystonia musculorum deformans. Neurology, 1973, 23, 392.
5. RAJPUT A.H. - Levodopa in dystonia musculorum deformans. - Lancet, 1973, 1, 432.
6. SCHENK E., KRUSCHKE U. - Familiäre progressive Dystonie mit Tagesschwangungen. Erfolgreiche Behandlung mit L-Dopa. Klin. Wochenschr., 1975, 53, 779-780.
7. SEGAWA M., HOSAKS A., MIYAGAWA F., NOMURA Y., IMAI H. - Hereditary progressive dystonia with marked diurnal fluctuations. Adv. Neurol., 1976, 14, 215-233.
8. RONDOT P., ZIEGLER M. - Dystonia L-Dopa responsive or juvenile parkinsonism. J Neurol Trans., 1983, suppl 19, 273-281.
9. NYGAARD T.G., DUVOISIN R.C. - Hereditary dystonia-pakinsonism. Neurology, 1986, 36, 1424-1428.
10. NYGAARD T.G., WILHELMSEN K.C., RISCH N.J., BROWN D.L., TRUGMAN J.M., GILLIAM T.C., FAHN S., WEEKS D.E. - Linkage mapping of dopa-responsive dystonia to chromosome 14q. Nature genetics, 1993, 5, 386-391.
11. LAMBERT P.W., VAN DEN HEUVEL J., LUITEN B., SMEITINK J.A.M., DE RIJK-VAN ANDEL KEITH HYLAND J.F., STEENBERGEN-SPANJERS G.C.H., JANSSEN R.J.T., WEVERS R.A. - A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-Dopa-responsive dystonia in the Dutch population. Hum. Genet., 1998, 102, 644-646.
12. FINK J.K, RAVIN P.D., FILLING-KATZ M., ARGOFF C.E., HALLETT M. - Clinical and genetic analysis of progresive dystonia with diurnal variation. Arch. Neurol., 1991, 48, 908-911.
13. OUVRIER R.A. - Progressive dystonia with marked diurnal fluctuation. Ann. Neurol., 1978, 4, 412-417.
14. NYGAARD T.G., MARSDEN C.D., FAHN S. - Dopa-responsive dystonia : long-term treatment response and prognosis. Neurology, 1991, 41, 174-181.
15. MUENTER M.D., GOMEZ M.R, GORDON H., SHARPLESS N.S. - L-Dopa Responsive Dystonia Musculorum Deformans with on-off effect. Neurology, 1982, 32, A 112.
16. MARTIN W.R.W. - Parkinson's disease and aging : presynaptic nigrostriatal function. In Martin WRW, ed. Functional imaging in movement disorders Boca Raton : CRC Press, 1990, 104-113.
17. SNOW B.J., TAKAHASHI H., MARTIN W.R.W., NYGAARD T.G., CLANE D.B. - Young onset Parkinsonism and Dopa-responsive dystonia compared by fluorodopa PET. 10th International Symposium on Parkinson's disease. 1991, Abstract F 33O4 p. 154.
18. TAKAHASHI H. - FD-PET in Dopa-responsive Dystonia. Ann. Neurol., 1994, 35, 354-356.
19. LE WITT P.A., GALLOWAY M.P., MATSON W. et al. - Markers of dopamine metabolism in Parkinson's disease. Neurology, 1992, 42, 2111-2117.
20. GAUTHIER J.C., AWADA A. - Dystonia Musculorum deformans. Effet favorable de la Bromocriptine. Rev. Neurol., 1983, 139, 449-450.
21. RONDOT P., AICARDI J., GOUTIERES F., ZIEGLER M. - Dystonies Dopa-Sensibles. Rev. Neurol., 1992, 148, 680-686.
22. RAJPUT A.H., GIBB R.G, ZHONG X.H., SHANNAK K.S., KISH S., CHANG L.G., HORNYKIEWICZ O. - Dopa-responsive Dystonia : pathological and biochemical observations in a case. Ann. Neurol., 1994, 35, 396-402.
23. FLETCHER N.A., HOLT J.J., HARDING A.E., NYGAARD T.G., MALLET J., MARSDEN C.D. Tyrosine hydroxylase and levodopa responsive dystonia. J. Neurol. Neurosurg. Psychiatr., 1989, 52, 112-114.
24. LE WITT P.A., MILLER L.P., LEVINE R.A., LOVENBERG W., NEWMAN R.P., PAPAVASILIOU A., RAYES ELDRIDGE R., BURNS R.S. - Tetrahydrobiopterin in dystonia : identification of abnormal metabolism and therapeutic trials. Neurology, 1986, 36, 760-764.
25. FURUKAWA Y., KONDO T., NISHI K., YOKOCHI F., NARABAYASHI H. - Total biopterin levels in ventricular CSF of patients with Parkinson's disease : a comparison between akineto-rigid and tremor types. J. Neurol. Sciences, 1991, 103, 232-237.