Elsevier

Parkinsonism & Related Disorders

Volume 71, February 2020, Pages 44-45
Parkinsonism & Related Disorders

Correspondence
Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?

https://doi.org/10.1016/j.parkreldis.2020.01.017Get rights and content
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Abstract

We present a case of mild, adult-onset dopa-responsive dystonia (DRD) with a heterozygous mutation in the tyrosine hydroxylase (TH) gene. We propose that this genetic state may have led to partial enzyme deficiency. Future studies should attempt to identify and characterize the phenotype of other patients with single TH variants.

Keywords

Dystonia
Dopa-responsive
Tyrosine hydroxylase
Heterozygote
Autosomal recessive

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