The development of autosomal dominant DOPA-responsive dystonia (AD-DRD) is stipulated by mutation in GTP-cyclohydrolase I gene. GTP-cyclohydrolase I is the first and key enzyme of tetrahydrobiopterin biosynthesis. Its deficiency in nigrostriatal dopaminergic neurons cause a decrease in tyrosine hydroxylase activity and therefore dopamine deficiency. However, administration of low doses of dopamine can control the development of AD-DRD. Determination of GTP-cyclohydrolase I activity in mononuclear blood cells is convenient diagnostic method
Nagatsu Toshi, Ichinose Hiroshi (1998) Autosomal dominant dopa-responsive dystonia caused by mutations in GTP cyclohydrolase I gene. Voprosy Meditsinskoi Khimii, 44(3), 225-228.
Nagatsu Toshi et al. Autosomal dominant dopa-responsive dystonia caused by mutations in GTP cyclohydrolase I gene // Voprosy Meditsinskoi Khimii. - 1998. - V. 44. -N 3. - P. 225-228.
Nagatsu Toshi et al., "Autosomal dominant dopa-responsive dystonia caused by mutations in GTP cyclohydrolase I gene." Voprosy Meditsinskoi Khimii 44.3 (1998): 225-228.
Nagatsu, Toshi,, Ichinose, Hiroshi (1998). Autosomal dominant dopa-responsive dystonia caused by mutations in GTP cyclohydrolase I gene. Voprosy Meditsinskoi Khimii, 44(3), 225-228.
References
Segawa M., Hosaka A., Miyagawa К, Nomura Y., Imai H. (1976) Adv. Neurol., 14, 215-233. Scholar google search
Tanaka H., Endo К., Tsuji S., Nygaard T.G., Weeks D.E., Nomura Y, Segawa M. (1995) Ann. Neurol. 37, 405-408. Scholar google search
Ichinose H, Ohye Т., Takahashi E, Seki N., Mori T., Segawa M., Nomura Y., Endo K., Tanaka H., Tsuji S., Fudjita K., Nagatsu T. (1995) Nature Genet. 8, 236-242. Scholar google search
Ichinose H., Ohye T., Matsuda Y., Eon T., Blau N., Burlina A., Rouse В., Matalon R., Fujita K., Nagatsu T. (1995) J. Bid. Chem. 270, 10062-10071. Scholar google search
Ichinose H., Ohye T., Segawa M., Nomura Y., Endo K., Tanaka K., Tsuji S., Fujita K., Nagatsu T. (1995) Neurosci Lett., 196, 5-8. Scholar google search
Hirano M., Tamaru Y, Nagai Y, ItoK, Imai Т., Ueno S. (1995) Biochem. Biophys. Res. Commun., 213, 645-651. Scholar google search
Hirano M., Tamaru Y, Ito H, Matumoto S., Imai T, Ueno S. (1996) Ann. Neurol., 40, 796-798. Scholar google search
Hirano M., Imaiso Y, Ueno S. (1995) Biochem. Biophys. Res. Commun., 234, 316-319. Scholar google search
Furukawa Y, Shimadzu M, Rajput A.H., Shimizu Y., Tagawa T, Mori H., Yokochi M, Narabayashi H., Hornyliewicz O., Mizuno Y., Kish SJ. (1996) Ann. Neurol., 39, 609-617. Scholar google search
Bandmann O., Nygaard T.G., Surtees R., Marsden CD., Wood N. W., Harding A.E. (1996) Human Mol. Genetc, 5, 403-406. Scholar google search
Jarman PR., Bandmann O., Marsden CD., Wood (1997) J. Neurol. Neurosurg. Psychiatr., 63, 304-308. Scholar google search
Muller U, Weber Y, Martinitus e.a. (1997) Am. J. Human Genet, 61 (Suppl.), A341. Scholar google search
Beyer K., Lao-Villadoniga J.I., Vecino-Bilbao D., Cacabelos K, De La Fuente- Fernandez R. (1997) Lancet, 340, 420-421. Scholar google search
Illarioshkin S.N, Miklina N.I., Slonimsky P.A. e.a. (1997) Am. J. Human Genet, 61 (Suppl.), A335. Scholar google search
Rajput A.H., Gibb W.R.G., Zhong X.H, Shannak KS., Kish S., Chang L.G., Hornykiewicz O. (1994) Ann. Neurol., 35, 396-402. Scholar google search
Niederwieser A., Blau N, Wang M., Joller P., Atares M., Cardesa-Garcia J. (1984) Eur. J. Pediatr., 141,208-214. Scholar google search
