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Neurology. 2004 Oct 26;63(8):1524-6.

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

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1
Department of Neurology, University Hospital Zürich, Zürich, Switzerland.

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.

PMID:
15505183
[Indexed for MEDLINE]
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