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

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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
Pages (from-to)	44-45
Number of pages	2
Journal	Parkinsonism & Related Disorders
Volume	71
Early online date	30 Jan 2020
DOIs	https://doi.org/10.1016/j.parkreldis.2020.01.017
Publication status	E-pub ahead of print - 30 Jan 2020

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1-s2.0-S1353802020300237-mainFinal published version, 416 KBLicence: Creative Commons: Attribution (CC-BY)

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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}",

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T2 - Evidence of symptomatic enzyme deficiency?

AU - Bally, Julien F

AU - Breen, David P

AU - Schaake, Susen

AU - Trinh, Joanne

AU - Rakovic, Aleksandar

AU - Klein, Christine

AU - Lang, Anthony E

PY - 2020/1/30

Y1 - 2020/1/30

N2 - 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.

AB - 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.

U2 - 10.1016/j.parkreldis.2020.01.017

DO - 10.1016/j.parkreldis.2020.01.017

M3 - Article

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VL - 71

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JO - Parkinsonism & Related Disorders

JF - Parkinsonism & Related Disorders

SN - 1353-8020

ER -

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

Abstract

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