ArticleJournal of Korean medical science2018
Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike.
Article in Journal of Korean medical science, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Dopa-responsive dystonia and phenotypes associated with TH gene variants: a systematic review and Mexican case series.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Pooled it
- Dopamine Transporter Deficiency Syndrome: A Rare Case of Infantile-Onset Dystonia-Parkinsonism.Journal of movement disorders · 2025Article
- Rare Movement Disorders-An Approach for Clinicians.International journal of molecular sciences · 2025Review
- Novel Phenotypes and Deep Intronic Variant Expand TH-Associated Dopa-Responsive Dystonia Spectrum.Annals of clinical and translational neurology · 2025Article
- Neuroregression in Two Siblings Due to Dopa-Responsive Dystonia (DRD)- Plus.Indian journal of pediatrics · 2024Article
- Dopa-responsive dystonia in Bulgarian patients: report of three cases.European journal of human genetics : EJHG · 2024Article
- Levodopa-Responsive Isolated Generalized Dystonia in a Patient with Alpha-Mannosidosis Due to a Novel Homozygous MAN2B1 Missense Variant-A Novel Association.Movement disorders clinical practice · 2024Article
- Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution.Journal of movement disorders · 2023Article
- Generalised dystonic presentation of CACNA1B-associated dystonia and its response to Levodopa.Acta neurologica Belgica · 2023Article
- The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson's disease in mainland China.NPJ Parkinson's disease · 2023Article
- Recognizing Atypical Dopa-Responsive Dystonia and Its Mimics.Neurology. Clinical practice · 2021Review
- Spinocerebellar ataxia type 3 with dopamine-responsive dystonia: A case report.World journal of clinical cases · 2021Article
- Dopa-responsive dystonia, DRD-plus and DRD look-alike: a pragmatic review.Acta neurologica Belgica · 2021Review
- Is Generalized and Segmental Dystonia Accompanied by Impairments in the Dopaminergic System?Frontiers in neurology · 2021Article
- Dopamine Transporter Deficiency Syndrome: A Case with Hyper- and Hypokinetic Extremes.Movement disorders clinical practice · 2020Article
- Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update. II. Hyperkinetic disorders.Journal of neural transmission (Vienna, Austria : 1996) · 2019Review
- A Compound Heterozygote for GCH1 Mutation Represents a Case of Atypical Dopa-Responsive Dystonia.Journal of molecular neuroscience : MN · 2019Article
- Stress-Induced Oculogyric Crisis in Septo-Optic Dysplasia: Case Report.Case reports in ophthalmologyArticle
- Dopa-Responsive Dystonia: An Early Presentation of Ataxia-Telangiectasia.Annals of Indian Academy of NeurologyArticle
- Series of Dopa Responsive Dystonia Masquerading as Other Diseases with Short Review.Journal of pediatric neurosciencesArticle
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Previously, we defined DRD as a syndrome of selective nigrostriatal dopamine deficiency caused by genetic defects in the dopamine synthetic pathway without nigral cell loss. DRD-plus also has the same etiologic background with DRD, but DRD-plus patients have more severe features that are not seen in DRD because of the severity of the genetic defect. However, there have been many reports of dystonia responsive to dopaminergic drugs that do not fit into DRD or DRD-plus (genetic defects in the dopamine synthetic pathway without nigral cell loss). We reframed the concept of DRD/DRD-plus and proposed the concept of DRD look-alike to include the additional cases described above. Examples of dystonia that is responsive to dopaminergic drugs include the following: transportopathies (dopamine transporter deficiency; vesicular monoamine transporter 2 deficiency);
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.