| Autor: |
Assmann, B.E., Robinson, R.O., Surtees, R.A.H., Bräutigam, C., Heales, S.J.R., Wevers, R.A., Zschocke, J., Hyland, K., Sharma, R., Hoffmann, G.F. |
| Zdroj: |
Neurology (Ovid); May 2004, Vol. 62 Issue: 10 p1872-1874, 3p |
| Abstrakt: |
Two girls and one boy are described, with severe infantile parkinsonism–dystonia. This syndrome is usually caused by endogenous dopamine deficiency but in these patients was associated with elevated dopamine metabolites in CSF and an unusual eye movement disorder ocular flutter together with saccade initiation failure. Pyramidal tract signs also emerged in the course of the disease in two patients. This combination of symptoms and biochemical findings suggests a unique pathogenic mechanism. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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