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Case Reports
. 2020 Feb:71:44-45.
doi: 10.1016/j.parkreldis.2020.01.017. Epub 2020 Jan 30.

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

Julien F Bally  1 , David P Breen  2 , Susen Schaake  3 , Joanne Trinh  3 , Aleksandar Rakovic  3 , Christine Klein  3 , Anthony E Lang  4
Affiliations
Case Reports

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

Julien F Bally et al. Parkinsonism Relat Disord. 2020 Feb.

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: Autosomal recessive; Dopa-responsive; Dystonia; Heterozygote; Tyrosine hydroxylase.

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Conflict of interest statement

Declaration of competing interest The manuscript has not been previously published and is not under review at any other journal. No other related work is under submission elsewhere. All authors of the paper have participated to the study, revised the manuscript and approved the final version of the manuscript. There is no ghost writer. There is no financial or any other type of conflict of interest related to the manuscript.

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