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

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.

Journal of neurology, neurosurgery, and psychiatry - 1 Jan 2006

Van Hove J L K, Steyaert J, Matthijs G, Legius E, Theys P, Wevers R, Romstad A, Møller L B, Hedrich K, Goriounov D, Blau N, Klein C, Casaer P

Abstract excerpt

BACKGROUND: Segawa syndrome due to GTP cyclohydrolase deficiency is an autosomal dominant disorder with variable expression, that is clinically characterised by l-dopa responsive, diurnally fluctuating dystonia and parkinsonian symptoms. OBJECTIVE: To delineate the neurological and psychiatric phenotype in all affected individuals of three extended families. METHODS: GTP cyclohydrolase deficiency was documented...

Read the complete abstract on PubMed

Topics

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

Share to Dystonia
Share to GTP Cyclohydrolase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lower Extremity

Share to Paraparesis, Spastic

Share to Parkinsonian Disorders

Share to Phenylalanine

Share to Reflex, Abnormal

Share to Tremor

Source

Open in PubMed Open full text

Identifiers

PMID: 16361586
DOI: 10.1136/jnnp.2004.051664
PMCID: PMC2117403

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.PMID 16361586Read ↗

Segawa's disease: dopa-responsive dystonia.Semantic proximity Read ↗

Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease.Semantic proximity Read ↗

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.Semantic proximity Read ↗

Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.Semantic proximity Read ↗

Dyskinesias as a limiting factor in the treatment of Segawa disease.Semantic proximity Read ↗

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.Semantic proximity Read ↗

Diagnosis and treatment of neurotransmitter-related disorders.Semantic proximity Read ↗

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

Neurologic and psychiatric manifestations in a family with a mutation in exon 2 of the guanosine triphosphate-cyclohydrolase gene.Semantic proximity Read ↗

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

[Segawa disease].Semantic proximity Read ↗

Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders.Semantic proximity Read ↗

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