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NEUROLOGY 2004;63:1524-1526
© 2004 American Academy of Neurology
Brief Communications

Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency

A. Schiller, MD, R. A. Wevers, PhD, G. C.H. Steenbergen, PhD, N. Blau, PhD and H. H. Jung, MD

From the Department of Neurology (Drs. Schiller and Jung), University Hospital Zürich; Laboratory of Pediatrics and Neurology (Drs. Wevers and Steenbergen), University Medical Center, Nijmegen, The Netherlands; and Division of Clinical Chemistry and Biochemistry (Dr. Blau), University Children’s Hospital, Zürich, Switzerland.

Address correspondence and reprint requests to Dr. Hans H. Jung, Department of Neurology, University Hospital Zürich, Frauenklinikstrasse 26, 8091 Zürich, Switzerland; e-mail: hans.jung{at}usz.ch

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.

Received March 26, 2004. Accepted in final form June 2, 2004.




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