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Article

Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation.

Annals of neurology - 1 Nov 1994

Bressman S B, de Leon D, Kramer P L, Ozelius L J, Brin M F, Greene P E, Fahn S, Breakefield X O, Risch N J

Abstract excerpt

A gene (DYT1) for idiopathic torsion dystonia maps to chromosome 9q34 in Ashkenazi Jewish families with early onset of symptoms. Further, there is linkage disequilibrium between DYT1 and a particular haplotype of alleles at 9q34 loci in this population. This implies that a large proportion of ear...

Topics

Adolescent
Adult
Aged
Child
Child, Preschool
Discriminant Analysis
Dystonia
Female
Haplotypes
Heterozygote
Humans
Jews
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Mutation

Polymorphism, Genetic

Source

Identifiers

PMID: 7979224
DOI: 10.1002/ana.410360514

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7979224-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation.PMID 7979224Read ↗

Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.Semantic proximity Read ↗

DYT1 mutation in French families with idiopathic torsion dystonia.Semantic proximity Read ↗

Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations.Semantic proximity Read ↗

Exclusion of the DYT1 locus in a non-Jewish family with early-onset dystonia.Semantic proximity Read ↗

The genetics of idiopathic torsion dystonia.Semantic proximity Read ↗

The DYT1 phenotype and guidelines for diagnostic testing.Semantic proximity Read ↗

Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?Semantic proximity Read ↗

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population.Semantic proximity Read ↗

Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32–34Semantic proximity Read ↗

De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.Semantic proximity Read ↗

Non-DYT1 dystonia in a large Italian family.Semantic proximity Read ↗

Secondary dystonia and the DYTI gene.Semantic proximity Read ↗

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