Autosomal-dominant GTPCH1-deficient DRD: Clinical characteristics and long-term outcome of 34 patients

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 80, Issue 8, 2009, Pages 839-845

  Trender Gerhard, I ^a   Sweeney, M G ^a   Schwingenschuh, P ^a,b   Mir, P ^a,c   Edwards, M J ^a   Gerhard, A ^d   Polke, J M ^a   Hanna, M G ^e   Davis, M B ^a   Wood, N W ^a   Bhatia, K P ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MEDICAL UNIVERSITY OF GRAZ   (Austria)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^d UNIVERSITY OF MANCHESTER   (United Kingdom)

^e MEDICAL RESEARCH COUNCIL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CABERGOLINE; DECARBOXYLASE INHIBITOR; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA; METIXENE; ROPINIROLE; SEX HORMONE; TRIHEXYPHENIDYL; DOPAMINE RECEPTOR STIMULATING AGENT; HORMONE;

ADD ON THERAPY; ADOLESCENT; ADULT; AGED; AGITATION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHOREA; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; COMBINATION CHEMOTHERAPY; CONTROLLED RELEASE FORMULATION; DEPRESSION; DEVELOPMENTAL DISORDER; DRUG DOSE INCREASE; DRUG EFFECT; DRUG EFFICACY; DRUG INDUCED HEADACHE; DRUG SAFETY; DRUG SUBSTITUTION; DRUG WITHDRAWAL; DYSKINESIA; DYSPHONIA; DYSTONIA; FATIGUE; FEMALE; FETUS DISEASE; FUNCTIONAL STATUS; GENE MUTATION; HETEROZYGOTE; HUMAN; LEG; LIMB TREMOR; MALE; MEIGE SYNDROME; MONOTHERAPY; MOOD CHANGE; MORNING DOSAGE; MOTOR DEVELOPMENT; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NAUSEA; ONSET AGE; OROMANDIBULAR DYSTONIA; PARKINSONISM; PHENOTYPE; PREGNANCY; PRIORITY JOURNAL; RESTLESS LEGS SYNDROME; SEX DIFFERENCE; SIDE EFFECT; SPASMODIC DYSPHONIA; TREATMENT DURATION; TREATMENT OUTCOME; TREATMENT RESPONSE; TREMOR; WRITER'S CRAMP; BLOOD; COHORT ANALYSIS; COMORBIDITY; DISEASE COURSE; GENETICS; LONG TERM CARE; MENTAL DISEASE; MIDDLE AGED; MUTATION; PSYCHOLOGICAL ASPECT;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; COHORT STUDIES; COMORBIDITY; DISEASE PROGRESSION; DOPAMINE AGENTS; DYSTONIA; FEMALE; GTP CYCLOHYDROLASE; HORMONES; HUMANS; LEVODOPA; LONG-TERM CARE; MALE; MENTAL DISORDERS; MIDDLE AGED; MUTATION; TREATMENT OUTCOME; YOUNG ADULT;

EID: 67849106621     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2008.155861     Document Type: Article

References (36)

1. Ichinose H, Ohye T, Takahashi E, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 1994;8:236-42.
2. Segawa M, Nomura Y, Nishiyama N. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease). Ann Neurol 2003;54(6 Suppl):32-45S.
3. Furukawa Y. Genetics and biochemistry of dopa-responsive dystonia: significance of striatal tyrosine hydroxylase protein loss. Adv Neurol 2003;91:401-10.
4. Blau N, Thoeny B, Dianzani I. Database of mutations causing tetrahydrobiopterin deficiencies. http://www.bh4.org/BH4Databases.asp (accessed 16 Apr 2009).
5. Kaufman S. Studies on the mechanism of the enzymatic conversion of phenylalanine to tyrosine. J Biol Chem 1959;234:2677-82.
6. Nagatsu T, Levitt M, Udenfriend S. Tyrosine hydroxylase. The initial step in norepinephrine biosynthesis. J Biol Chem 1964;239:2910-17.
7. Ichinose H, Ohye T, Matsuda Y, et al. Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency. J Biol Chem 1995;270:10062-71.
8. Segawa M, Ohmi K, Itoh S, et al. Childhood basal ganglia disease with remarkable response to L-Dopa, hereditary basal ganglia disease with marked diurnal fluctuation. Shinryo 1971;24:667-72.
9. Kong CK, Ko CH, Tong SF, et al. Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness. Neurology 2001;57:1121-4.
10. Regula JU, Thoden U, Meinck HM. Adult-onset dystonia: Atypical manifestation of Segawa disease. Mov Disord 2007;22:1335-7.
11. Furuya H, Murai H, Takasugi K, et al. A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTPcyclohydrase I (GCH1) gene. Clin Neurol Neurosurg 2006;108:784-6.
12. Chaila EC, McCabe DJ, Delanty N, et al. Broadening the phenotype of childhoodonset dopa-responsive dystonia. Arch Neurol 2006;63:1185-8.
13. Hjermind LE, Johannsen LG, Blau N, et al. Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency? Mov Disord 2006;21:679-82.
14. 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.
15. Tassin J, Durr A, Bonnet AM, et al. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? Brain 2000;123:1112-21.
16. Bandmann O, Valente EM, Holmans P, et al. Dopa-responsive dystonia: a clinical and molecular genetic study. Ann Neurol 1998;44:649-56.
17. Bandmann O, Nygaard TG, Surtees R, et al. Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. Hum Mol Genet 1996;5:403-6.
18. Nitschke M, Steinberger D, Heberlein I, et al. Dopa responsive dystonia with Turner's syndrome: clinical, genetic, and neuropsychological studies in a family with a new mutation in the GTP-cyclohydrolase I gene. J Neurol Neurosurg Psychiatry 1998;64:806-8.
19. Hagenah J, Saunders-Pullman R, Hedrich K, et al. High mutation rate in doparesponsive dystonia: detection with comprehensive GCHI screening. Neurology 2005;64:908-11.
20. Skrygan M, Bartholome B, Bonafe L, et al. A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping. J Inherit Metab Dis 2001;24:345-51.
21. Weber Y, Steinberger D, Deuschl G, et al. Two previously unrecognized splicing mutations of GCH1 in Dopa-responsive dystonia: exon skipping and one base insertion. Neurogenetics 1997;1:125-7.
22. Steinberger D, Korinthenberg R, Topka H, et al. Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group. Neurology 2000;55:1735-7.
23. Ludecke B, Dworniczak B, Bartholome K. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum Genet 1995;95:123-5.
24. Robinson R, McCarthy GT, Bandmann O, et al. GTP cyclohydrolase deficiency; intrafamilial variation in clinical phenotype, including levodopa responsiveness. J Neurol Neurosurg Psychiatry 1999;66:86-9.
25. Leuzzi V, Carducci C, Carducci C, et al. Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. Neurology 2002;59:1241-3.
26. Allen RP, Picchietti D, Hening WA, et al. Restless legs syndrome: diagnostic criteria, special considerations, and epidemiology. A report from the restless legs syndrome diagnosis and epidemiology workshop at the National Institutes of Health. Sleep Med 2003;4:101-19.
27. Furukawa Y. Update on dopa-responsive dystonia: locus heterogeneity and biochemical features. Adv Neurol 2004;94:127-38.
28. Serova LI, Filipenko M, Schilt N, et al. Estrogen-triggered activation of GTP cyclohydrolase 1 gene expression: role of estrogen receptor subtypes and interaction with cyclic AMP. Neuroscience 2006;140:1253-63.
29. Shimoji M, Hirayama K, Hyland K, et al. GTP cyclohydrolase I gene expression in the brains of male and female hph-1 mice. J Neurochem 1999;72:757-64.
30. Nygaard TG, Takahashi H, Heiman GA, et al. Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia. Ann Neurol 1992;32:603-8.
31. Nomura Y, Uetake K, Yukishita S, et al. Dystonias responding to levodopa and failure in biopterin metabolism. Adv Neurol 1998;78:253-66.
32. Fink JK, Ravin PD, Filling-Katz M, et al. Clinical and genetic analysis of progressive dystonia with diurnal variation. Arch Neurol 1991;48:908-11.
33. Furukawa Y, Kish SJ. Dopa-responsive dystonia: recent advances and remaining issues to be addressed. Mov Disord 1999;14:709-15.
34. Van Hove JL, Steyaert J, Matthijs G, et al. Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency. J Neurol Neurosurg Psychiatry 2006;77:18-23.
35. Narrow WE, Rae DS, Robins LN, et al. Revised prevalence estimates of mental disorders in the United States: using a clinical significance criterion to reconcile 2 surveys' estimates. Arch Gen Psychiatry 2002;59:115-23.
36. Nygaard T, Snow BJ, Fahn S. Dopa-responsive dystonia: clinical characteristics and definition. In: Segawa M, ed. Hereditary progressive dystonia with marked diurnal fluctuation. New York: Parthenon, 1993:21-35.