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

The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q.

Annals of neurology - 1 Mar 1995

Tanaka H, Endo K, Tsuji S, Nygaard T G, Weeks D E, Nomura Y, Segawa M

Abstract excerpt

Hereditary progressive dystonia with marked diurnal fluctuation (HPD) is a childhood-onset, postural dystonia that is characterized by marked diurnal fluctuation and a dramatic response to levodopa. Recently, the gene for dopa-responsive dystonia (DRD), an autosomal dominant dystonia showing similarly marked response to levodopa, has been mapped to chromosome 14q. Since HPD and DRD share many clinical...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Mapping
Share to Chromosomes, Human, Pair 14
Share to Circadian Rhythm

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Genotype

Share to Lod Score

Share to Pedigree

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 7695242
DOI: 10.1002/ana.410370319

Genes

HPD

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q.PMID 7695242Read ↗

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.Semantic proximity Read ↗

Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q.Semantic proximity Read ↗

Rapid-onset dystonia-parkinsonism: Linkage to chromosome 19q13Semantic proximity Read ↗

Early onset parkinsonism with diurnal fluctuation maps to a locus for juvenile parkinsonism.Semantic proximity Read ↗

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

GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation.Semantic proximity Read ↗

Is phenotypic variation of hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) caused by the difference of the locus of mutation on the GTP cyclohydrolase 1 (GCH-1) gene?Semantic proximity Read ↗

Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia.Semantic proximity Read ↗

[Recessive dopa-responsive form of dystonia due to a mutation of the tyrosine hydroxylase gene].Semantic proximity Read ↗

Autosomal dominant restless legs syndrome maps on chromosome 14q.Semantic proximity Read ↗

A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q.Semantic proximity Read ↗

A novel locus for restless legs syndrome maps to chromosome 19p in an Irish pedigree.Semantic proximity Read ↗

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