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={N. Risch and Deborah de Leon and L. Ozelius and P. Kramer and L. Almasy and B. Singer and S. Fahn and X. Breakefield and Susan Bressman},
  journal={Nature Genetics},
  year={1995},
  volume={9},
  pages={152-159}
}
  • N. Risch, Deborah de Leon, +6 authors Susan Bressman
  • Published 1995
  • Biology, Medicine
  • Nature Genetics
  • 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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