DOPA-sensitive dystonia-plus sydrome

Developmental Medicine and Child Neurology

Volumn 47, Issue 3, 2005, Pages 200-203

  Casseron, Wilfrid ^a   Genton, Pierre ^b  

^a TIMONE HOSPITAL   (France)

^b CENTRE SAINT PAUL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BENSERAZIDE; DOPA; LEVODOPA;

ARTICLE; CASE REPORT; CHILDHOOD; CIRCADIAN RHYTHM; CLINICAL FEATURE; DISEASE ASSOCIATION; DRUG EFFICACY; DRUG SENSITIVITY; DRUG WITHDRAWAL; DYSTONIA; FACE DYSMORPHIA; FAMILY HISTORY; FATHER; FATIGUE; FEMALE; HUMAN; LEARNING DISORDER; MOTHER; OBESITY; ONSET AGE; PRIORITY JOURNAL; RECURRENT DISEASE; SCHOOL CHILD; SHORT STATURE; SIBLING; SYMPTOMATOLOGY;

ADOLESCENT; BENSERAZIDE; BRAIN; CHILD; CHILD BEHAVIOR DISORDERS; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; DIAGNOSIS, DIFFERENTIAL; DIHYDROXYPHENYLALANINE; DNA MUTATIONAL ANALYSIS; DOPAMINE AGENTS; DOSE-RESPONSE RELATIONSHIP, DRUG; DRUG THERAPY, COMBINATION; DYSTONIC DISORDERS; FATIGUE; FEMALE; FOLLOW-UP STUDIES; GENOTYPE; GTP CYCLOHYDROLASE; HUMANS; LEARNING DISORDERS; MAGNETIC RESONANCE IMAGING; NEUROLOGIC EXAMINATION; PEDIGREE; PHENOTYPE; RESIDENTIAL TREATMENT; STATISTICS; SUBSTANCE WITHDRAWAL SYNDROME; TREATMENT OUTCOME;

EID: 14044273003     PISSN: 00121622     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0012162205000368     Document Type: Article

References (22)

1. Apak RA, Topcu M. (1999) A case of paroxysmal tonic upgaze of childhood with ataxia. Eur J Paediatr Neurol 3: 129-131.
2. Bezin L, Anastasiadis PZ, Nygaard TG, Levine RA. (1998) Tetrahydrobiopterin metabolism and GTP cyclohydrolase I mutations in L-dopa-responsive dystonia. Adv Neurol 78: 291-300.
3. Campistol J, Prats JM, Garaizar C. (1993) Benign paroxysmal tonic upgaze of childhood with ataxia. A neuro-ophthalmological syndrome of familial origin? Dev Med Child Neurol 35: 436-439.
4. Deonna T, Ferreira A. (1985) Idiopathic fluctuating dystonia: a case of foot dystonia and writer's cramp responsive to L-dopa. Dev Med Child Neurol 27: 819-821.
5. Deonna T. (1986) DOPA-sensitive progressive dystonia of childhood with fluctuations of symptoms - Segawa's syndrome and possible variants. Results of a collaborative study of the European Federation of Child Neurology Societies (EFCNS) Neuropediatrics 17: 81-85.
6. Deonna T, Roulet E, Ghika J, Zesiger P. (1997) Dopa-responsive childhood dystonia: a forme fruste with writer's cramp, triggered by exercise. Dev Med Child Neurol 39: 49-53.
7. Furukawa Y. (2003) Genetics and biochemistry of dopa-responsive dystonia: significance of striatal tyrosine hydroxylase protein loss. Adv Neurol 91: 401-410.
8. Gherpelli JL, Nagae LM, Diament A. (1995) DOPA-sensitive progressive dystonia of childhood with diurnal fluctuations of symptoms: a case report. Arq Neuropsiquiatr 53: 298-301.
9. Giroud M, Septien L, Couillault G, Gras P, Nivelon JL, Dumas R. (1992) DOPA-sensitive muscular dystonia. Segawa's syndrome. A case report. Ann Pediatr 39: 248-250.
10. Guerrini R, Belmonte A, Carrozzo R. (1998) Paroxysmal tonic upgaze of childhood with ataxia: a benign transient dystonia with autosomal dominant inheritance. Brain Dev 20: 116-118.
11. Ichinose H, Ohye T, Takahashi E, Seki N, Hori T, Segawa M, Nomura Y, Endo K, Tanaka H, Tsuji S. (1994) Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 8: 236-242.
12. Ichinose H, Nagatsu T. (1996) Molecular genetics of hereditary progressive dystonia (HPD/Segawa's disease). Nippon Rinsho 54: 1453-1459.
13. Ichinose H, Suzuki T, Inagaki H, Ohye T, Nagatsu T. (1999) Molecular genetics of dopa-responsive dystonia. Biol Chem 380: 1355-1364.
14. Kang UJ, Bencsics C, Wachtel S, Lew R. (1998) The effect of GTP cyclohydrolase-1 on tyrosine hydroxylase expression: implications in DOPA-responsive dystonia. Adv Neurol 78: 319-324.
15. Muller U, Steinberger D, Nemeth AH. (1998) Clinical and molecular genetics of primary dystonias. Neurogenetics 1: 165-177.
16. Nagatsu T, Ichinose H. (1996) GTP cyclohydrolase I gene, tetrahydrobiopterin, and tyrosine hydroxylase gene: their relations to dystonia and parkinsonism. Neurochem Res 21: 245-250.
17. Nygaard TG, Marsden CD, Fahn S. (1999). Dopa-responsive dystonia: long-term treatment response and prognosis. Neurology 41: 174-181.
18. Nygaard TG, Takahashi H, Heiman GA, Snow BJ, Fahn S, Calne DB. (1992) Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia. Ann Neurol 32: 603-608.
19. Rondot P, Aicardi J, Goutieres F, Ziegler M. (1992) Dopa-sensitive dystonia. Rev Neurol 148: 680-686.
20. Segawa M, Hosaka A, Miyagawa F, Nomura Y, Imai H. (1976) Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 14: 215-233.
21. Segawa M, Nomura Y, Yamashita S, Kase M, Nishiyama N, Yukishita S, Ohta H, Nagata Y, Hosaka A. (1990) Long-term effect of L-dopa on hereditary progressive dystonia with marked diurnal fluctuation. In: Berardelli A, Benecke R, Manfredi M, Marsden CD, editors. Motor Disturbances II. London: Academic Press. p 305-318.
22. Segawa M, Nomura Y, Nishiyama N. (2003) Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease). Ann Neurol 54 (Suppl. 6): 32-45.