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

Novel GCH-1 mutations and unusual long-lasting dyskinesias in Korean families with dopa-responsive dystonia.

Parkinsonism & related disorders - 1 Dec 2013

Lee Jee-Young, Yang Hee Joon, Kim Jong-Min, Jeon Beom S

Abstract excerpt

OBJECTIVE: To describe the long-term follow-up data of Korean patients with GTP cyclohydrolase (GTPCH) I deficient dopa-responsive dystonia (DRD) with novel mutations and unusual long-lasting dyskinesias. METHODS: Clinical features and genetic testing results of GCH1 from 19 patients that included 4 families who have been followed-up for up to 25 years were analyzed. RESULTS: GCH1 mutations were confirmed in all...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Dopamine Agents
Share to Dyskinesias

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dystonic Disorders

Share to Family

Share to GTP Cyclohydrolase

Share to Levodopa

Share to Phenylketonurias

Source

Identifiers

PMID: 24018121
DOI: 10.1016/j.parkreldis.2013.08.003

Genes

GCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel GCH-1 mutations and unusual long-lasting dyskinesias in Korean families with dopa-responsive dystonia.PMID 24018121Read ↗

Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia.Semantic proximity Read ↗

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

Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia.Semantic proximity Read ↗

A novel missense mutation of the GTP cyclohydrolase 1 gene in a Taiwanese family with dopa-responsive dystonia: A case report.Semantic proximity Read ↗

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

A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene.Semantic proximity Read ↗

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

Case Report: Guitarist’s cramp as the initial manifestation of dopa-responsive dystonia with a novel heterozygous GCH1 mutationSemantic proximity Read ↗

Pathogenic Variant in the 5'-Untranslated Region of GCH1 and Clinical Heterogeneity in a Chinese Family with Dopa-Responsive Dystonia.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 ↗

A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia.Semantic proximity Read ↗

Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease.Semantic proximity Read ↗

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