Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs.

Archives of neurology - 1 Dec 2012

Tadic Vera, Kasten Meike, Brüggemann Norbert, Stiller Sophie, Hagenah Johann, Klein Christine

Abstract excerpt

OBJECTIVE: To investigate the delay in diagnosis, residual motor signs, and nonmotor signs of dopa-responsive dystonia (DRD) using literature and our own pilot data. DESIGN, SETTING, AND PATIENTS: We searched the MEDLINE database for patients with clinically typical DRD and/or guanosine triphosphate cyclohydrolase I gene mutations from 1952 to 2011 and examined a pilot cohort of 23 outpatients with DRD and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biochemical and Molecular Research
Share to Delayed Diagnosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dystonic Disorders

Share to Glycogen Storage Diseases and Myoclonus

Share to GTP Cyclohydrolase

Share to MEDLINE

Share to Metabolism and Genetic Disorders

Share to Mutation

Source

Identifiers

PMID: 22986512
DOI: 10.1001/archneurol.2012.574

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs.PMID 22986512Read ↗

Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis.Semantic proximity Read ↗

Clinical spectrum of dopa-responsive dystonia and related disorders.Semantic proximity Read ↗

Update on dopa-responsive dystonia: locus heterogeneity and biochemical features.Semantic proximity Read ↗

PRKRA-related Dystonia: A Summary of Previously Reported CasesSemantic proximity Read ↗

Non-motor symptoms in genetically defined dystonia: Homogenous groups require systematic assessment.Semantic proximity Read ↗

Genetic and clinical profile of a Brazilian cohort of dopa-responsive dystonia.Semantic proximity Read ↗

A case of dopa-responsive dystonia with a novel GCH1 variant c.579 C > G (p.Ile193Met).Semantic proximity Read ↗

Early-Onset Dystonia, Exacerbation With Fever, and Striatal Signal Changes: Emerging Phenotype of DYT-PRKRA.Semantic proximity Read ↗

[The varied etiologies of childhood-onset dystonia].Semantic proximity Read ↗

Dystonia-plus syndromes.Semantic proximity Read ↗

Secondary dystonias.Semantic proximity Read ↗

Diagnosis and Management of Dystonia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.