Occurrence of GCH1 gene mutations in a group of Indian dystonia patients

Journal of Neural Transmission

Volumn 119, Issue 11, 2012, Pages 1343-1350

  Naiya, Tufan ^a   Misra, Amar K ^b   Biswas, Arindam ^a   Das, Shyamal K ^b   Ray, Kunal ^c   Ray, Jharna ^a  

^a UNIVERSITY OF CALCUTTA   (India)

^b BANGUR INSTITUTE OF NEUROSCIENCES   (India)

^c INDIAN INSTITUTE OF CHEMICAL BIOLOGY   (India)

Author keywords

Dopa responsive dystonia (DRD); Dystonia; EOPD; GCH1

Indexed keywords

DNA; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA;

ADULT; ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; DOPA RESPONSIVE DYSTONIA; DYSTONIA; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; INDIAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PARKINSON DISEASE; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; DOPAMINE AGENTS; DYSTONIA; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GTP CYCLOHYDROLASE; HUMANS; INDIA; LEVODOPA; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE;

EID: 84869507781     PISSN: 03009564     EISSN: 14351463     Source Type: Journal    
DOI: 10.1007/s00702-012-0777-z     Document Type: Article

References (33)

1. Bandmann O, Nygaard TG, Surtees R, Marsden CD, Wood NW, Harding AE (1996) Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. Hum Mol Genet 5:403-406
2. Biswas A, Gupta A, Naiya T, Das G, Neogi R, Datta S, Mukherjee S, Das SK, Ray K, Ray J (2006) Molecular pathogenesis of Parkinson's disease: identification of mutations in the Parkin gene in Indian patients. Parkinsonism Relat Disord 12:420-426
3. Brain MF, Jankovic J, Comella C, Blitzer A, Tsui J, Pullman SL (1995) Treatment of dystonia using botulinum toxin. In: Kurlan Roger (ed) Treatment of movement disorders. JB Lippincott, NewYork, pp 183-246
4. Bressman SB (2003) Dystonia: phenotypes and genotypes. Rev Neurol (Paris) 159:849-856
5. Claes K, Vandesompele J, Poppe B, Dahan K, Coene I, De Paepe A, Messiaen L (2002) Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 50 end of the BRCA1 gene. Oncogene 21:4171-4175
6. Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, Landrieu P, Nguyen K, Ponsot G, Abada M, Doummar D, Damier P, Gil R, Thobois S, Ward AJ, Hutchinson M, Toutain A, Picard F, Camuzat A, Fedirko E, San C, Bouteiller D, LeGuern E, Durr A, Vidailhet M, Brice A (2009) Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with doparesponsive dystonia. Brain 132:1753-1763
7. Furukawa Y, Nygaard TG, Gutlich M, Rajput AH, Pifl C, DiStefano L, Chang LJ, Price K, Shimadzu M, Hornykiewicz O, Haycock JW, Kish SJ (1999) Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia. Neurology 53:1032-1041
8. Furukawa Y, Guttman M, Wong H, Farrell SA, Furtado S, Kish SJ (2003) Serum prolactin in symptomatic and asymptomatic doparesponsive dystonia due to a GCH1 mutation. Neurology 61:269-270
9. Garavaglia B, Invernizzi F, Carbone ML, Viscardi V, Saracino F, Ghezzi D, Zeviani M, Zorzi G, Nardocci N (2004) GTPcyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations. J Inherit Metab Dis 27:455-463
10. Glavac D, Dean M (1993) Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations. Hum Mutat 2:404-414
11. Grotzsch H, Schnorf H, Morris MA, Moix I, Horvath J, Prilipko O, Burkhard PR (2004) Phenotypic heterogeneity of dopa-responsive dystonia in monozygotic twins. Neurology 62:637-639
12. Harwood G, Hierons R, Fletcher NA, Marsden CD (1994) Lessons from a remarkable family with dopa-responsive dystonia. J Neurol Neurosurg Psychiatry 57:460-463
13. Ichinose H, Ohye T, Takahashi E, Seki N, Hori T, Segawa M, Nomura Y, Endo K, Tanaka H, Tsuji S et al (1994) Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 8:236-242
14. Jarman PR, Bandmann O, Marsden CD, Wood NW (1997) GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs. J Neurol Neurosurg Psychiatry 63:304-308
15. Johns MB Jr, Paulus-Thomas JE (1989) Purification of human genomic DNA from whole blood using sodium perchlorate in place of phenol. Anal Biochem 180:276-278
16. Loudianos G, Lovicu M, Dessi V, Tzetis M, Kanavakis E, Zancan L, Zelante L, Galvez-Galvez C, Cao A (2002) Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. Hum Mutat 20:260-266
17. Momma K, Funayama M, Li Y, Ichinose H, Motoyoshi K, Hattori N, Mizuno Y, Kamakura K (2009) A new mutation in the GCH1 gene presents as early-onset Parkinsonism. Parkinsonism Relat Disord 15:160-161
18. Naiya T, Biswas A, Neogi R, Datta S, Misra AK, Das SK, Ray K, Ray J (2006) Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients. Acta Neurol Scand 114:210-215
19. Nar H, Huber R, Auerbach G, Fischer M, Hosl C, Ritz H, Bracher A, Meining W, Eberhardt S, Bacher A (1995) Active site topology and reaction mechanism of GTP cyclohydrolase I. Proc Natl Acad Sci 92:12120-12125
20. Nygaard TG (1993) Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis. Adv Neurol 60:577-585
21. Nygaard TG, Trugman JM, de Yebenes JG, Fahn S (1990) Doparesponsive dystonia: the spectrum of clinical manifestations in a large North American family. Neurology 40:66-69
22. Nygaard TG, Marsden CD, Fahn S (1991) Dopa-responsive dystonia: long-term treatment response and prognosis. Neurology 41:174-181
23. Nygaard TG, Waran SP, Levine RA, Naini AB, Chutorian AM (1994) Dopa-responsive dystonia simulating cerebral palsy. Pediatr Neurol 11:236-240
24. Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci 74:5463-5467
25. Segawa M (2000) Hereditary progressive dystonia with marked diurnal fluctuation. Brain Dev 22(Suppl 1):S65-S80
26. Segawa M (2009) Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5). Chang Gung Med J 32:1-11
27. Segawa M, Nomura Y, Nishiyama N (2003) Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease). Ann Neurol 54(Suppl 6):S32-S45
28. Steinberger D, Korinthenberg R, Topka H, Berghauser M, Wedde R, Muller U, German Dystonia Study Group (2000) Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. Neurology 55:1735-1737
29. Tamaru Y, Hirano M, Ito H, Kawamura J, Matsumoto S, Imai T, Ueno S (1998) Clinical similarities of hereditary progressive/ dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene. J Neurol Neurosurg Psychiatry 64:469-473
30. Tassin J, Durr A, Bonnet AM, Gil R, Vidailhet M, Lucking CB, Goas JY, Durif F, Abada M, Echenne B, Motte J, Lagueny A, Lacomblez L, Jedynak P, Bartholome B, Agid Y, Brice A (2000) Levodopa-responsive dystonia GTP cyclohydrolase I or parkin mutations? Brain 123(Pt 6):1112-1121
31. Uncini A, De Angelis MV, Di Fulvio P, Ragno M, Annesi G, Filla A, Stuppia L, Gambi D (2004) Wide expressivity variation and high but no gender-related penetrance in two dopa-responsive dystonia families with a novel GCH-I mutation. Mov Disord 19:1139-1145
32. Watanabe T, Matsubara S, Baba Y, Tanaka H, Suzuki T, Suzuki M (2009) Successful management of pregnancy in a patient with Segawa disease: case report and literature review. J Obstet Gynaecol Res 35:562-564
33. Zamore PD, Patton JG, Green MR (1992) Cloning and domain structure of the mammalian splicing factor U2AF. Nature 355:609-614