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

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 pa...

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Detalles Bibliográficos
Autores principales: Bally, Julien F., Breen, David P., Schaake, Susen, Trinh, Joanne, Rakovic, Aleksandar, Klein, Christine, Lang, Anthony E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Science 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7109519/
https://www.ncbi.nlm.nih.gov/pubmed/32018151
http://dx.doi.org/10.1016/j.parkreldis.2020.01.017
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author Bally, Julien F.
Breen, David P.
Schaake, Susen
Trinh, Joanne
Rakovic, Aleksandar
Klein, Christine
Lang, Anthony E.
author_facet Bally, Julien F.
Breen, David P.
Schaake, Susen
Trinh, Joanne
Rakovic, Aleksandar
Klein, Christine
Lang, Anthony E.
author_sort Bally, Julien F.
collection PubMed
description 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.
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spelling pubmed-71095192020-04-03 Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency? Bally, Julien F. Breen, David P. Schaake, Susen Trinh, Joanne Rakovic, Aleksandar Klein, Christine Lang, Anthony E. Parkinsonism Relat Disord Article 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. Elsevier Science 2020-02 /pmc/articles/PMC7109519/ /pubmed/32018151 http://dx.doi.org/10.1016/j.parkreldis.2020.01.017 Text en © 2020 The Authors http://creativecommons.org/licenses/by/4.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Bally, Julien F.
Breen, David P.
Schaake, Susen
Trinh, Joanne
Rakovic, Aleksandar
Klein, Christine
Lang, Anthony E.
Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?
title Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?
title_full Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?
title_fullStr Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?
title_full_unstemmed Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?
title_short Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?
title_sort mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: evidence of symptomatic enzyme deficiency?
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7109519/
https://www.ncbi.nlm.nih.gov/pubmed/32018151
http://dx.doi.org/10.1016/j.parkreldis.2020.01.017
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