Discover Community Create You

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

Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture?

Journal of neurology, neurosurgery, and psychiatry - 1 Jun 2002

Grimes D A, Barclay C L, Duff J, Furukawa Y, Lang A E

Abstract excerpt

BACKGROUND: Dopa responsive dystonia (DRD) is a disorder characterised by childhood onset dystonia but a wide range of clinical presentations has now been described. OBJECTIVE: To study a large Canadian family with presumed DRD. METHODS: The clinical features of the family were collected before molecular genetic mutational analysis. RESULTS: All nine individuals in whom a clinical diagnosis of DRD was definite or...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Diagnosis, Differential

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dystonic Disorders

Share to Frameshift Mutation

Share to GTP Cyclohydrolase

Share to Infant

Share to Pedigree

Share to Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 12023430
DOI: 10.1136/jnnp.72.6.801
PMCID: PMC1737930

Genes

GCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture?PMID 12023430Read ↗

Dopa-responsive dystonia and Tourette syndrome in a large Danish family.Semantic proximity Read ↗

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

GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia.Semantic proximity Read ↗

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

A Novel Variant of GCH1 in Dopa-Responsive Dystonia With Oculogyric Crises and Intrafamilial Phenotypic HeterogeneitySemantic proximity Read ↗

Mutations of GCH1 in Dopa-responsive dystonia.Semantic proximity Read ↗

Han Chinese patients with dopa-responsive dystonia exhibit a low frequency of exonic deletion in the GCH1 gene.Semantic proximity Read ↗

Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients.Semantic proximity Read ↗

Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1Semantic proximity Read ↗

Genetic analysis reveals phenotypic variability in three Colombian families with dopa-responsive dystonia: novel genotype-phenotype correlations.Semantic proximity Read ↗

[Analysis of clinical phenotype and CGH1 gene mutations in a family affected with dopa-responsive dystonia].Semantic proximity Read ↗

Occurrence of GCH1 gene mutations in a group of Indian dystonia patients.Semantic proximity Read ↗

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