Dopa-responsive dystonia;Dopa-reaktivna distonija

Vojnosanitetski Pregled

Volumn 66, Issue 1, 2009, Pages 29-34

  Durić, Gordana ^a   Svetel, Marina ^b   Džoljić, Eleonora ^b   Kostić, Vladimir ^b  

^a Zavod za Zdravstvenu Zaštitu Radnika Železnica Srbije ^*  (Serbia)

^b Institut za Neurologiju   (Macedonia)

Author keywords

Diagnosis; Diagnosis differential; Drug therapy; Dystonic disorders; Levodopa; Mutation; Treatment outcome

Indexed keywords

ADENINE; GUANINE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA;

ARTICLE; AUTORADIOGRAPHY; CLINICAL ARTICLE; CLINICAL PROTOCOL; CONSCIOUSNESS; DISEASE COURSE; DRUG EFFECT; DYSTONIA; EXON; FAMILY HISTORY; FEMALE; GAIT DISORDER; GENE AMPLIFICATION; GENE DELETION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC IDENTIFICATION; HAND TREMOR; HETEROZYGOSITY; HUMAN; INTRON; MUSCLE FATIGUE; MYALGIA; PARESTHESIA; POINT MUTATION; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; REMISSION; SPEECH DISORDER; STRESS; TORSION DYSTONIA; ADOLESCENT; ADULT; AGED; DIFFERENTIAL DIAGNOSIS; GENETICS; MIDDLE AGED; MUTATION; PEDIGREE;

ADOLESCENT; ADULT; AGED; DIAGNOSIS, DIFFERENTIAL; DYSTONIA; GTP CYCLOHYDROLASE; HUMANS; LEVODOPA; MIDDLE AGED; MUTATION; PEDIGREE; POINT MUTATION; SEQUENCE DELETION;

EID: 60749106656     PISSN: 00428450     EISSN: None     Source Type: Journal    
DOI: 10.2298/vsp0901029d     Document Type: Article

References (21)

1. Segawa M, Ohmi K, Itoh S, Hayanowa H. Childhood basal ganglia disease with remark-able response to L-dopa, 'hereditary basal ganglia disease with marked diurnal fluctuation. Chirio (Tokyo) 1971; 24: 667-672
2. Beck D. Dystonia Musculorum Deformans with Another Case in the Same Family. Proc R Soc med 1947; 40(10): 551-552
3. Ichinose H, Ohye T, Takahashi E, Seki N, Hori T, Segawa M, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 1994; 8(3): 236-242 (Pubitemid 24338734)
4. Bandmann O, Nygaard TG, Surtees R, Marsden CD, Wood NW, Harding AE. Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. Hum Mol Genet 1996; 5(3): 403-406 (Pubitemid 26069585)
5. Nygaard TG, Marsden CD, Duvoisin RC. Dopa-responsive dystonia. Adv Neurol 1988; 50: 377-384
6. Nygaard TG, Snow BJ, Fahn S, Celue DB. Dopa-responsive dystonia: clinical characteristis and definition. In: Segawa M, editors. Hereditary Progressive Dystonia with Marked Diurnal Fluctuation. Publishing Lanes, MM: Parthenon group; 1993. p. 3-35.
7. Steinberger D, Weber Y, Korinthenberg R, Deuschl G, Benecke R, Martinius J, et al. High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia. Ann Neurol 1998; 43(5): 634-639 (Pubitemid 28225555)
8. Illarioshkin SN, Markova ED, Slominsky PA, Miklina NI, Popova SN, Limborska SA, et al. The GTP cyclohydrolase I gene in Russian families with dopa-responsive dystonia. Arch Neurol 1998; 55(6): 789-792 (Pubitemid 28265694)
9. Eldridge R. The torsion dystonias: literature review and genetic and clinical studies. Neurology 1970; 20(11): 1-78.
10. Segawa M, Hosaka A, Miyagawa F, Nomura Y, Imai H. Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 1976; 14: 215-233
11. Charles PD, Davis TL, Robertson D, Fenichel GM. Dystonia and unique muscle features. A 23-year follow-up and correction of diagnosis in two brothers. Arch Neurol 1995; 52(8): 825-826
12. Nygaard TG, Marsden CD, Fahn S. Dopa-responsive dystonia: long-term treatment response and prognosis. Neurology 1991; 41 ( Pt 1): 174-181
13. Nygaard TG, Trugman JM, de Yebenes JG Fahn S. Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family. Neurology 1990; 66: 66-69 (Pubitemid 20032895)
14. Rajput AH, Gibb WR, Zhong XH, shannak KS, Kish S, Chang LG, et al. Dopa-responsive dystonia: pathological and biochemical obserbation in a case. Ann Neurolo 1994; 35(4): 396-402.
15. Wang PJ, Ko YM, Young C, Hwu WL, Shen YZ. Hereditary progressive dystonia with marked diurnal fluctuation (Segawa syndrome) in Taiwan: Brain Dev; Brain 1994; 16(2): 126-131 (Pubitemid 24114108)
16. Fink JK, Barton N, Cohen W, Lovenberg W, Burns RS, Hallett M. Dystonia with marked diurnal variation associated with biopterin deficiency. Neurology 1988; 38(5): 707-711 (Pubitemid 18118704)
17. Tassin J, Dürr A, Bonnet AM, Gil R, Vidailhet M, Lücking CB, et al. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? Brain 2000; 123(Pt 6): 1112-1121
18. Ozelius LJ, Breakefield XO. Co-factor insufficiency in dystonia-parkinsonian syndrome. Nat Genet 1994; 8(3): 207-209 (Pubitemid 24338725)
19. Nygaard TG. Dopa-responsive dystonia: 20 years into the levodopa era. In: Quinn NP, Jenner PG, eds. Disorders of movement: Clinical, pharmacological an physiological aspects. London: Academic Press, 1989; 323-337
20. Müller K, Hömberg V, Lenard HG. Motor control in childhood onset dopa-responsive dystonia (Segawa syndrome). Neuropediatrics 1989; 20(4): 185-191 (Pubitemid 19284902)
21. Poewe WH, Lees AJ, Stern GM. Low-dose L-dopa therapy in Parkinson's disease: a 6-year follow-up study. Neurology 1986; 36(11): 1528-1530 (Pubitemid 17175783)