ReviewNature reviews. Neurology2015
Dopa-responsive dystonia--clinical and genetic heterogeneity.
Review in Nature reviews. Neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 99 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
99 citing papers in PubMed, 1 synthesis or guideline pooled it, 253 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
- Equivocal Dopamine Transporter Imaging: Integrating Visual Assessment, Quantification, and Clinical Follow-Up.Life (Basel, Switzerland) · 2026Review
- A case of dopa-responsive dystonia with a novel GCH1 variant c.579 C > G (p.Ile193Met).Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Genetic analysis reveals phenotypic variability in three Colombian families with dopa-responsive dystonia: novel genotype-phenotype correlations.BMC medical genomics · 2026Article
- Clinical and genetic spectrum of L-dopa responsive dystonia: insights from seven Egyptian cases.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review.Metabolites · 2026Review
- Phenylalanine-tyrosine-catecholamine axis disorders: pathways, molecular diagnosis, therapeutics, and emerging translational monitoring technologies.Frontiers in molecular biosciences · 2026Review
- Hereditary spastic paraplegia: from decades of therapy to future innovations.Therapeutic advances in neurological disorders · 2026Review
- Movement Disorders in Children: Treatment Algorithm and Surgical Options.Advances and technical standards in neurosurgery · 2026Review
- Dopa responsive dystonia due to a GCH1 gene variant mimicking hereditary spastic paraparesis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Delayed diagnosis of dopa-responsive dystonia initially attributed to syringomyelia: A case report.Current journal of neurology · 2025Article
- Non-nystagmus hyperkinetic eye movement disorders.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Review
- Rare Movement Disorders-An Approach for Clinicians.International journal of molecular sciences · 2025Review
- Pediatric Genetic Dystonias: Current Diagnostic Approaches and Treatment Options.Life (Basel, Switzerland) · 2025Review
- Thalamic deep brain stimulation improves movement in a cerebellar model of lesion-based status dystonicus.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2025Article
- Behavioral signature of trihexyphenidyl in theDystonia (Lausanne, Switzerland) · 2025Article
- Anticholinergic drugs for parkinsonism and other movement disorders.Journal of neural transmission (Vienna, Austria : 1996) · 2024Review
- Describing Clinical Features of Movement Disorders for Effective Research Reporting.Movement disorders clinical practice · 2024Article
- Targeting DBS to the centrolateral thalamic nucleus improves movement in a lesion-based model of acquired cerebellar dystonia in mice.bioRxiv : the preprint server for biology · 2024Article
- Therapeutic Effects of Dual Dopaminergic Modulation With l-DOPA and Chlorpromazine in Patients With Idiopathic Cervical Dystonia.Neurology. Clinical practice · 2024Article
39 more citing papers are in PubMed but not listed here.
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dopa-responsive dystonia (DRD) encompasses a group of clinically and genetically heterogeneous disorders that typically manifest as limb-onset, diurnally fluctuating dystonia and exhibit a robust and sustained response to levodopa treatment. Autosomal dominant GTP cyclohydrolase 1 deficiency, also known as Segawa disease, is the most common and best-characterized condition that manifests as DRD, but a similar presentation can be seen with genetic abnormalities that lead to deficiencies in tyrosine hydroxylase, sepiapterin reductase or other enzymes that are involved in the biosynthesis of dopamine. In rare cases, DRD can result from conditions that do not affect the biosynthesis of dopamine; single case reports have shown that DRD can be a manifestation of hereditary spastic paraplegia type 11, spinocerebellar ataxia type 3 and ataxia telangiectasia. This heterogeneity of conditions that underlie DRD frequently leads to misdiagnosis, which delays the appropriate treatment with levodopa. Correct diagnosis at an early stage requires use of the appropriate diagnostic tests, which include a levodopa trial, genetic testing (including whole-exome sequencing), cerebrospinal fluid neurotransmitter analysis, the phenylalanine loading test, and enzyme activity measurements. The selection of tests for use depends on the clinical presentation and level of complexity. This Review presents the common and rarer causes of DRD and their clinical features, and considers the most appropriate approaches to ensure early diagnosis and treatment.
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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.