Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
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.

PubMed Disclaimer

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.

Comment in

References

    1. Wijemanne S., Jankovic J. Dopa-responsive dystonia--clinical and genetic heterogeneity. Nat. Rev. Neurol. 2015;11(7):414–424. - PubMed
    1. Willemsen M.A., Verbeek M.M., Kamsteeg E.-J. Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain: J. Neurol. 2010;133(Pt 6):1810–1822. - PubMed
    1. Furukawa Y., Kish S. Tyrosine hydroxylase deficiency.; 1993. http://www.ncbi.nlm.nih.gov/pubmed/20301610 - PubMed
    1. Yeung W.-L., Wong V.C.N., Chan K.-Y. Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency. J. Child Neurol. 2011;26(2):179–187. - PubMed
    1. Katus L.E., Frucht S.J. An unusual presentation of tyrosine hydroxylase deficiency. J. clin. Mov. Disord. 2017;4:18. - PMC - PubMed

Substances

Supplementary concepts