Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations

Movement Disorders

Volumn 19, Issue 10, 2004, Pages 1256-1258

  Furukawa, Yoshiaki ^a   Filiano, James J ^b   Kish, Stephen J ^a  

^a CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^b DARTMOUTH HITCHCOCK MEDICAL CENTER   (United States)

Author keywords

Amantadine; GTP cyclohydrolase I deficiency; Levopoda induced dyskinesias

Indexed keywords

AMANTADINE; BACLOFEN; DECARBOXYLASE INHIBITOR; DOPAMINE; GENOMIC DNA; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEUCINE; LEVODOPA; PHENYLALANINE; PROLINE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DISEASE SEVERITY; DRUG EFFICACY; DYSKINESIA; DYSTONIA; ENZYME DEFICIENCY; FEMALE; GENE DELETION; GENE MUTATION; GENETIC POLYMORPHISM; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; MOTOR DYSFUNCTION; PARKINSONISM; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SIBLING; STOP CODON; TREATMENT OUTCOME; WHEELCHAIR;

AMANTADINE; ANTIPARKINSON AGENTS; CHILD; CHOREA; DOPAMINE AGENTS; DYSKINESIA, DRUG-INDUCED; GTP CYCLOHYDROLASE; HETEROZYGOTE; HUMANS; LEVODOPA; MALE; PARKINSON DISEASE; PEDIGREE; PHENOTYPE; POINT MUTATION;

EID: 7244251644     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.20194     Document Type: Article

References (15)

1. Furukawa Y, Kish SJ, Bebin EM, et al. Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. Ann Neurol 1998;44:10-16.
2. Furukawa Y, Guttman M, Wong H, Farrell SA, Furtado S, Kish SJ. Serum prolactin in symptomatic and asymptomatic dopa-responsive dystonia due to a GCH1 mutation. Neurology 2003;61:269-270.
3. Niederwieser 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 1984;141:208-214.
4. Bräutigam C, Steenbergen-Spanjers GCH, Hoffmann GF, et al. Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. Clin Chem 1999;45: 2073-2078.
5. Grattan-Smith PJ, Wevers RA, Steenbergen-Spanjers GC, Fung VSC, Earl J, Wilcken B. Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy. Mov Disord 2002;17:354-359.
6. Furukawa Y. Update on dopa-responsive dystonia: locus heterogeneity and biochemical features. Adv Neurol 2004;94:127-138.
7. Blanchet PJ, Verhagen Metman L, Chase TN. Renaissance of amantadine in the treatment of Parkinson's disease. Adv Neurol 2003;91:251-257.
8. Furukawa Y, Lang AE, Trugman JM, et al. Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia. Neurology 1998;50:1015-1020.
9. Hauf M, Cousin P, Solida A, Albanese A, Ghika J, Schorderet DF. A family with segmental dystonia: evidence for polymorphism in GTP cyclohydrolase I gene (GCH I). Mov Disord 2000;15(Suppl. 3):154-155.
10. Nomura T, Ichinose H, Sumi-Ichinose C, et al. Cloning and sequencing of cDNA encoding mouse GTP cyclohydrolase I. Biochem Biophys Res Commun 1993;191:523-527.
11. Chase TN, Oh JD. Striatal dopamine- and glutamate-mediated dysregulation in experimental parkinsonism. Trends Neurosci 2000;23(Suppl.):S86-S91.
12. Furukawa Y, Nygaard TG, Gütlich M, et al. Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia. Neurology 1999;53:1032-1041.
13. Furukawa Y, Kish SJ, Fahn S. Dopa-responsive dystonia due to mild tyrosine hydroxylase deficiency. Ann Neurol 2004;55:147-148.
14. Verhagen Metman L, Morris MJ, Farmer C, et al. Huntington's disease: a randomized, controlled trial using the NMDA-antagonist amantadine. Neurology 2002;59:694-699.
15. Lucetti C, Del Dotto P, Gambaccini G, et al. IV amantadine improves chorea in Huntington's disease: an acute randomized, controlled study. Neurology 2003;60:1995-1997.