Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency

Neurology

Volumn 63, Issue 8, 2004, Pages 1524-1526

  Schiller, A ^a   Wevers, R A ^b   Steenbergen, G C H ^b   Blau, N ^c   Jung, Hans H ^a  

^a UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

BENSERAZIDE; CATECHOLAMINE; LEVODOPA; TYROSINE 3 MONOOXYGENASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CHRONIC DRUG ADMINISTRATION; CLINICAL FEATURE; COGNITIVE DEFECT; DISEASE ASSOCIATION; DISEASE COURSE; DRUG DOSE REGIMEN; DRUG EFFECT; DYSTONIA; ENZYME DEFICIENCY; HETEROZYGOTE; HUMAN; LONG TERM CARE; LOW DRUG DOSE; MALE; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRIORITY JOURNAL; TYROSINE HYDROXYLASE DEFICIENCY;

EID: 7044240807     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000142083.47927.0A     Document Type: Article

References (10)

1. Segawa M, Hosaka A, Miyagawa F, Nomura Y, Imai H. Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 1976;14:215-233.
2. 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;8:236-242.
3. Ludecke B, Dworniczak B, Bartholome K. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum Genet 1995;95:123-125.
4. Castaigne P, Rondot P, Ribadeau-Dumas JL, Said G. Affection extrapyramidale évoluant chez deux jeunes frères: effets remarquables du traitement par la L-dopa. Rev Neurol (Paris) 1971;124:162-166.
5. Swaans RJ, Rondot P, Renier WO, van den Heuvel LP, Steenbergen-Spanjers GC, Wevers RA. Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. Ann Hum Genet 2000;64:25-31.
6. Hoffmann GF, Assmann B, Brautigam C, et al. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. Ann Neurol 2003;54(Suppl 6):S56-S65.
7. Furukawa Y. Update on dopa-responsive dystonia: locus heterogeneity and biochemical features. Adv Neurol 2004;94:127-138.
8. Blau N, Bonafe L, Thony B. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. Mol Genet Metab 2001;74:172-185.
9. Furukawa Y, Graf WD, Wong H, Shimadzu M, Kish SJ. Doparesponsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations. Neurology 2001;56:260-263.
10. Quinn NP. Classification of fluctuations in patients with Parkinson's disease. Neurology 1998;51(Suppl 2):S25-S29.