l-dopa–responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency
Abstract
Article abstract Tyrosine hydroxylase deficiency was confirmed biochemically and genetically in four unrelated Dutch patients. The patients have a hypokinetic-rigid parkinsonian syndrome with symptoms in early infancy (3 to 6 months of age). Only sporadic dystonic movements were seen. There was no diurnal fluctuation. All patients showed a rapid favorable response to low-dose l-dopa/carbidopa treatment. Motor performance improved but did not fully normalize. The patients have mild mental retardation.
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References
1.
Lüdecke B, Dworniczak B, Bartholomé K. A point mutation in the tyrosine hydroxylase gene associated with Segawa’s syndrome. Hum Genet . 1995; 95: 123–125.
2.
Lüdecke B, Knappskog PM, Clayton PT, 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.
3.
Bräutigam C, Wevers RA, Jansen RJT, et al. Biochemical hallmarks of tyrosine hydroxylase deficiency. Clin Chem . 1998; 44: 1897–1904.
4.
Van den Heuvel LPWJ, Luiten B, Smeitink JAM, et al. A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA responsive dystonia in the Dutch population. Hum Genet . 1998; 102: 644–646.
5.
Bartholomé K, Lüdecke B. Mutations in the Tyrosine Hydroxylase gene cause various forms of L-DOPA responsive dystonia. Adv Pharmacol . 1998; 42: 48–49.
6.
Segawa M, Ohmi K, Itoh S, Aoyama M, Hayakawa H. Childhood basal ganglia disease with remarkable response to l-DOPA, hereditary basal ganglia disease with marked diurnal fluctuation. Shinryo (Tokio) . 1971; 24: 667–672.
7.
Ichinose H, Ohye T, Takahashi E, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nature Genet . 1994; 8: 236–242.
8.
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: 403–406.
9.
Hyland K, Surtees RAH, Rodeck C, Clayton PT. Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis. Neurology . 1992; 42: 1980–1988.
10.
Bandmann O, Valante EM, Holmans P, et al. DOPA-responsive dystonia: a clinical and molecular genetic study. Ann Neurol . 1998; 44: 649–656.
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Publication History
Received: December 21, 1998
Accepted: August 24, 2000
Published online: December 26, 2000
Published in print: December 26, 2000
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