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

Julien F. Bally; David P. Breen; Susen Schaake; Joanne Trinh; Aleksandar Rakovic; Christine Klein; Anthony E. Lang

doi:10.1016/j.parkreldis.2020.01.017

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

Julien F. Bally, David P. Breen, Susen Schaake, Joanne Trinh, Aleksandar Rakovic, Christine Klein, Anthony E. Lang^*

^*Corresponding author for this work

Institute of Neurogenetics

7 Citations (Scopus)

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.

Original language	English
Journal	Parkinsonism and Related Disorders
Volume	71
Pages (from-to)	44-45
Number of pages	2
ISSN	1353-8020
DOIs	https://doi.org/10.1016/j.parkreldis.2020.01.017
Publication status	Published - 02.2020

Funding

DPB: Consultancies: Closed Loop Medicine. Honoraria: Abbvie, Bial and GE Healthcare; Grants: Wellcome Trust Clinical Research Career Development Fellowship and RS MacDonald Neurological Seedcorn Fund; Employment: University of Edinburgh and NHS Lothian. DPB is supported by a Wellcome Clinical Research Career Development Fellowship. JT is supported by the Alexander Von Humboldt Foundation , Canadian Institutes of Health Research and Joachim Herz Foundation .

Research Areas and Centers

Research Area: Medical Genetics

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1016/j.parkreldis.2020.01.017

Cite this

@article{344e9118da734ea486fd1b7ddfa28fc8,

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

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.",

author = "Bally, \{Julien F.\} and Breen, \{David P.\} and Susen Schaake and Joanne Trinh and Aleksandar Rakovic and Christine Klein and Lang, \{Anthony E.\}",

year = "2020",

month = feb,

doi = "10.1016/j.parkreldis.2020.01.017",

language = "English",

volume = "71",

pages = "44--45",

journal = "Parkinsonism and Related Disorders",