Erratum: Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency (Journal of Child Neurology (2011) 26:2 (179-187) DOI:10.1177/0883073810377014);Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency

Journal of Child Neurology

Volumn 26, Issue 2, 2011, Pages 179-187

  Yeung, Wai Lan ^a,b   Wong, Virginia C N ^c   Chan, Kwok Yin ^d   Hui, Joannie ^a   Fung, Cheuk Wing ^c   Yau, Eric ^d   Ko, Chun Hung ^e   Lam, Ching Wan ^c   Mak, Chloe M ^d   Siu, Simon ^f   Low, Louis ^c  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b ALICE HO MIU LING NETHERSOLE HOSPITAL   (Hong Kong)

^c UNIVERSITY OF HONG KONG   (Hong Kong)

^d PRINCESS MARGARET HOSPITAL   (Hong Kong)

^e Caritas Medical Centre Hong Kong   (Hong Kong)

^f QUEEN MARY HOSPITAL   (Hong Kong)

Author keywords

cerebrospinal fluid neurotransmitters; children; dopa responsive dystonia; tyrosine hydroxylase deficiency

Indexed keywords

HOMOVANILLIC ACID; LEVODOPA; SELEGILINE; TYROSINE 3 MONOOXYGENASE;

ADOLESCENT; ADULT; ARTICLE; BRAIN DISEASE; CEREBROSPINAL FLUID; CHILD; CLINICAL ARTICLE; DYSTONIA; FEMALE; HUMAN; HYPERPROLACTINEMIA; MALE; METABOLIC DISORDER; PARKINSONISM; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TREATMENT RESPONSE; TYROSINE HYDROXYLASE DEFICIENCY;

EID: 79551652126     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073812448570     Document Type: Erratum

References (19)

1. Pearl PL, Taylor JL, Trzcinski S., Sokohl A. The pediatric neurotransmitter disorders. J Child Neurol. 2007 ; 22: 606-616.
2. Clayton PT, Heales SJ, Brand M., et al. An infant with clinical features: a metabolic profile to treatment suggestive of tyrosine hydroxylase deficiency. Poster presented at the 32nd Annual Symposium of the Society for the Study of Inborn Errors of Metablism, September 6-9, 1994 ; Edinburgh, UK.
3. Furukawa Y. Update on dopa-responsive dystonia: locus heterogeneity and biochemical features. Adv Neurol. 2004 ; 94: 127-138.
4. Bräutigam C., Steenbergen-Spanjers GC, Hoffmann GF, et al. Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. Clin Chem. 1999 ; 45: 2073-2078.
5. de Rijk-van Andel JF, Gabreëls FJ, Geurtz B., et al. L-doparesponsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxydase deficiency. Neurology. 2000 ; 55: 1926-1928.
6. Grattan-Smith PJ, Wevers RA, Steenbergen-Spanjers GC, et al. Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy. Mov Dis. 2002 ; 17: 354-359.
7. Furukawa Y., Kish SJ, Fahn S. Dopa-responsive dystonia due to mild tyrosine hydroxydase deficiency. Ann Neurol. 2004 ; 55: 147-148.
8. Castaigne P., Rondot P., Ribadeau-Dumas JL, Saïd G. Progressive extra-pyramidal disorder in 2 young brothers. Remarkable effects of treatment with L-Dopa [in French]. Rev Neurol. 1971 ; 124: 162-166.
9. Schiller A., Wevers RA, Steenbergen GC, et al. Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. Neurology. 2004 ; 63: 1524-1526.
10. Hoffmann GF, Assmann B., Bräutigam C., et al. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopanonresponsive dystonia. Ann Neurol. 2003 ; 54 (suppl 6). S56 - S65.
11. Furukawa Y., Graf WD, Wong H., et al. Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase gene mutations. Neurology. 2001 ; 56: 260-263.
12. Mak CM, Lam CW, Siu TS, et al. Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese [published online ahead of print December 21, 2009]. Mol Genet Metab. 2010 ; 99: 431-433.
13. Yeung WL, Lam CW, Hui J., et al. Galactorrhea-a strong clinical clue towards the diagnosis of neurotransmitter disease. Brain Dev. 2006 ; 28: 389-391.
14. Chan-Lui WY, Low LC Progressive dystonia with marked diurnal fluctuation in a Chinese family. Aust Paediatr J. 1984 ; 20: 143-146.
15. Furukawa Y., Kish SJ, Bebin EM, et al. Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase 1 gene mutations. Ann Neurol. 1998 ; 44: 10-16. (Pubitemid 28323650)
16. Dionisi-Vici C., Hoffmann GF, Leuzzi V., et al. Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy. J Pediatr. 2000 ; 136: 560-562.
17. Kong CK, Ko CH, Tong SF, Lam CW Atypical presentation of dopa-resposive dystonia:generalized hypotonia and proximal weakness. Neurology. 2001 ; 57: 1121-1124.
18. van den Heuvel LP, Luiten B., Smeitink JA, et al. A common point mutation in the tyrosine hydroxylase gene in autosomsal recessive L-dopa responsive (DRD) in the Dutch population. Hum Genet. 1998 ; 102: 644-646.
19. Häussler M., Hoffmann GF, Wevers RA L-dopa and selegiline for tyrosine hydroxylase deficiency. J Pediatr. 2001 ; 138: 451-452.