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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.

SUBMITTER: Bally JF

PROVIDER: S-EPMC7109519 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature

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

Bally Julien F JF Breen David P DP Schaake Susen S Trinh Joanne J Rakovic Aleksandar A Klein Christine C Lang Anthony E AE

Parkinsonism & related disorders 20200130

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. ...[more]

PMID: 32018151

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