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 | |
| 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 .
UN SDGs
This output contributes to the following UN Sustainable Development Goals (SDGs)
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SDG 3 Good Health and Well-being
Research Areas and Centers
- Research Area: Medical Genetics
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