| Autor: |
Andel, J. F. de Rijk–van, Gabreëls, F. J.M., Geurtz, B., Steenbergen–Spanjers, G. C.H., Heuvel, L. P.W.J. van den, Smeitink, J. A.M., Wevers, R. A. |
| Zdroj: |
Neurology (Ovid); December 2000, Vol. 55 Issue: 12 p1926-1928, 3p |
| Abstrakt: |
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. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
|
