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

@article{Risch1995GeneticAO,
  title={Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population},
  author={Neil J. Risch and D. Gonzales De L{\'e}on and Laurie Ozelius and Patricia Kramer and Laura Almasy and Burton H. Singer and Stanley Fahn and Xandra O. Breakefield and Susan B. Bressman},
  journal={Nature Genetics},
  year={1995},
  volume={9},
  pages={152-159}
}
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 northern part of the historic Jewish Pale of settlement (Lithuania and Byelorussia… CONTINUE READING
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