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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 early-onset idiopathic torsion dystonia in Ashkenazi Jews is due to a founder mutation in DYT1. To characterize the...

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

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Source

Identifiers

PMID: 7979224
DOI: 10.1002/ana.410360514

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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

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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