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Article

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

Nature genetics - 1 Feb 1995

Risch N, de Leon D, Ozelius L, Kramer P, Almasy L, Singer B, Fahn S, Breakefield X, Bressman S

Abstract excerpt

We have examined data on six closely linked microsatellite loci on chromosome 9q34 from 59 Ashkenazi Jewish families with idiopathic torsion dystonia (ITD). Our data show that the vast majority (> 90%) of early-onset ITD cases in the Ashkenazi population are due to a single founder mutation, which we estimate first appeared approximately 350 years ago. We also show that carriers preferentially originate from the...

Topics

Alleles
Chromosome Mapping
Chromosomes, Human, Pair 9
Dystonia Musculorum Deformans
Europe
Gene Frequency
Genetic Markers
Genetics, Population
History, 17th Century
Humans
Jews

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Time

Source

Identifiers

PMID: 7719342
DOI: 10.1038/ng0295-152

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7719342-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population.PMID 7719342Read ↗

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