Tyrosine hydroxylase deficiency presenting with a biphasic clinical course

Neuropediatrics

Volumn 38, Issue 4, 2007, Pages 213-215

  Glovanniello, T ^a   Leuzzi, V ^a   Carduci, C ^a   Carducci, C ^a   Di Sabato, M L ^a   Artiola, C ^a   Santagata, S ^a   Pozzessere, S ^a   Antonozzi, I ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Biogenic amine disorders; Dystonic syndrome; L DOPA carbidopa; Spastic paraplegia; Tyrosine hydroxylase

Indexed keywords

CARBIDOPA PLUS LEVODOPA; SELEGILINE; TYROSINE 3 MONOOXYGENASE;

ADOLESCENT; ARTICLE; CASE REPORT; CEREBROSPINAL FLUID; DISEASE COURSE; DOPAMINE METABOLISM; DOSE RESPONSE; DRUG DOSE INCREASE; DRUG HYPERSENSITIVITY; DYSKINESIA; DYSTONIA; ELECTROENCEPHALOGRAM; ENZYME DEFICIENCY; GENETIC POLYMORPHISM; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; SPASTIC PARAPLEGIA; TYROSINE HYDROXYLASE DEFICIENCY;

ADOLESCENT; DNA MUTATIONAL ANALYSIS; DOPAMINE AGENTS; HUMANS; LEVODOPA; MALE; MUTATION; PARAPLEGIA; TYROSINE 3-MONOOXYGENASE;

EID: 37749050846     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-991151     Document Type: Article

References (10)

1. Bandmann O, Marsden CD, Wood NW. Atypical presentations of dopa-responsive dystonia. Adv Neurol 1998; 78: 283-290
2. Dionisi-Vici C, Hoffmann GF, Leuzzi V, Hoffken H, Brautigam C, Rizzo C et al. Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy. J Pediatr 2000; 136: 560-562
3. Furukawa Y, Kish SJ, Fahn S. Dopa-responsive dystonia due to mild tyrosine hydroxylase deficiency. Ann Neurol 2004; 55: 147-148
4. Furukawa Y, Shimadzu M, Homykiewicz O, Kish SJ. Molecular and biochemical aspects of hereditary progressive and dopa-responsive dystonia. Adv Neurol 1998; 78: 267-282
5. Goodwill KE, Sabatier C, Marks C, Raag R, Fitzpatrick PF, Stevens RC. Crystal structure of tyrosine hydroxylase at 2.3-angstrom and its implications for inherited neurodegenerative diseases. Nature Struct Biol 1997; 4: 578-585
6. Grima B, Lamouroux A, Boni C, Julien JF, Javoy-Agid F, Mallet J. A single human gene encoding multiple tyrosine hydroxylases with different predicted functional characteristics. Nature 1987; 326: 707-711
7. Hoffmann GF, Assmann B, Brautigam C, Dionisi-Vici C, Haussler M, Klerk JB de et al. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. Ann Neurol 2003; 54 (Suppl 6): S56-S65
8. Knappskog PM, Flatmark T, Mallet J, Ludecke B, Bartholome K. Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381 K) in the tyrosine hydroxylase gene. Hum Mol Genet 1995; 4: 1209-1212
9. Ludecke B, Knappskog PM, Clayton PT, Surtees RAH, Clelland JD, Heales SJR et al. Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Hum Mol Genet. 1996; 5: 1023-1028
10. Nardocci N, Zorzi G, Blau N, Fernandez Alvarez E, Sesta M, Angelini L et al. Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency. Neurology 2003; 60: 335-337