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 role of DYT1 in primary torsion dystonia in Europe.

Brain : a journal of neurology - 1 Dec 1998

Valente E M, Warner T T, Jarman P R, Mathen D, Fletcher N A, Marsden C D, Bhatia K P, Wood N W

Abstract excerpt

Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous movement disorder. DYT1 on chromosome 9q34 was the first PTD gene to be mapped. A 3-bp (GAG) deletion in this gene was reported to account for almost all early limb-onset generalized PTD. No relationship has been found w...

Topics

Adolescent
Adult
Base Sequence
Carrier Proteins
Child
Chromosome Mapping
Dystonia
Female
Gene Deletion
Genotype
Humans
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Chaperones

Mutation

Pedigree

Phenotype

Torsion Abnormality

Source

Identifiers

PMID: 9874484
DOI: 10.1093/brain/121.12.2335

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9874484-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The role of DYT1 in primary torsion dystonia in Europe.PMID 9874484Read ↗

Phenotypic variability of DYT1-PTD: does the clinical spectrum include psychogenic dystonia?Semantic proximity Read ↗

Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia.Semantic proximity Read ↗

Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset.Semantic proximity Read ↗

DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13–36.32 in an Italian family with cranial‐cervical or upper limb onsetSemantic proximity Read ↗

Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature.Semantic proximity Read ↗

Phenotypic characterization of DYT13 primary torsion dystonia.Semantic proximity Read ↗

A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia.Semantic proximity Read ↗

Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia.Semantic proximity Read ↗

Intrafamilial phenotypic and genetic heterogeneity of dystonia.Semantic proximity Read ↗

Clinical features, DYT1 mutation screening and genotype-phenotype correlation in patients with dystonia from Iran.Semantic proximity Read ↗

Primary torsion dystonia due to the Tor1A GAG deletion in an Irish family.Semantic proximity Read ↗

Mutations in DYT1: extension of the phenotypic and mutational spectrum.Semantic proximity Read ↗

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