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| Title: | Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. |
| Author(s): | Schiller, A.
Wevers, R.A. (068311508)
Steenbergen-Spanjers, G.C.H. (298203790)
Blau, N.
Jung, H.H. |
| Publication year: | 2004 |
| Document type: | Article / Letter to editor |
| Journal: | Neurology |
| ISSN: | 0028-3878 |
| Volume: | vol. 63 |
| Issue: | iss. 8 |
| Start page: | p. 1524 |
| End page: | p. 1526 |
| Abstract: | The authors report the long-term course of two siblings with L-dopa responsive dystonia (DRD) associated with a compound heterozygous mutation in the tyrosine hydroxylase (TH) gene. Both siblings manifested with lower-limb onset generalized DRD and had a sustained response to low-dose L-dopa therapy for over 35 years. Although the l-dopa therapy was delayed up to 20 years after disease onset, there were no cognitive or neurologic sequelae of the long-term catecholamine deficit. |
| Subject: | UMCN 3.1: Neuromuscular development and genetic disorders
UMCN 5.1: Genetic defects of metabolism |
| Organization: | UMCN Extern
Neurology
Paediatrics |
| Appears in Collections: | Academic bibliography
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Please use this identifier to cite or link to this item:
http://hdl.handle.net/2066/57504
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