We read with great interest the recent paper entitled “Clinical characteristics and
diagnostic clues to Neurometabolic causes of dystonia” written by Phua et al. [
[1]
]. From a therapeutic viewpoint, we would like to comment on the section of “Neurotransmitter
diseases” in this wonderful review article. The authors have described dopamine-responsive
dystonia (DRD) and DRD-plus syndrome in this section.Keywords
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References
- Clinical characteristics and diagnostic clues to Neurometabolic causes of dystonia.J. Neurol. Sci. 2020; 419: 117167https://doi.org/10.1016/j.jns.2020.117167
- GTP cyclohydrolase 1-deficient dopa-responsive dystonia.GeneReviews. 2019; (Accessed April 1, 2021)
- Tyrosine hydroxylase deficiency.GeneReviews. 2017; (Accessed April 1, 2021)
- Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.Neurogenetics. 2011; 12: 183-191https://doi.org/10.1007/s10048-011-0279-4
- Leaky splicing variant in sepiapterin reductase deficiency.Neurol Genet. 2019; 5e319https://doi.org/10.1212/NXG.0000000000000319
- C207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia.Neurol Genet. 2017; 3e197https://doi.org/10.1212/NXG.0000000000000197
- Paroxysmal stiffening, upward gaze, and hypotonia. Hallmarks of sepiapterin reductase deficiency.Neurology. 2012; 78: e29-e32https://doi.org/10.1212/WNL.0b013e3182452849
- Sepiapterin reductase deficiency.GeneReviews. 2015; (Accessed April 1, 2021)
- Nonmotor symptoms in dopa-responsive dystonia.Mov Disord Clin Pract. 2015; 2: 347-356https://doi.org/10.1002/mdc3.12211
- A marked contrast between serotonergic and dopaminergic changes in dopa-responsive dystonia.Neurology. 2016; 87: 1060-1061https://doi.org/10.1212/WNL.0000000000003065
Article info
Publication history
Published online: April 20, 2021
Accepted:
April 19,
2021
Received:
April 10,
2021
Identification
Copyright
© 2021 Elsevier B.V. All rights reserved.
