1. Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?
- Author
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Bally JF, Breen DP, Schaake S, Trinh J, Rakovic A, Klein C, and Lang AE
- Subjects
- Aged, Heterozygote, Humans, Male, Severity of Illness Index, Dystonic Disorders diagnosis, Dystonic Disorders enzymology, Dystonic Disorders genetics, Tyrosine 3-Monooxygenase deficiency, Tyrosine 3-Monooxygenase genetics
- 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., Competing Interests: 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., (Copyright © 2020 The Authors. Published by Elsevier Ltd.. All rights reserved.)
- Published
- 2020
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