Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families.

@article{Hamida1993FriedreichsAP,
  title={Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families.},
  author={Mongi Ben Hamida and Samir Belal and Giorgio Sirugo and Christiane Ben Hamida and K Panayides and P Ionannou and Jacques Beckmann and J. L. Mandel and Fayçal Hentati and Michel Koenig},
  journal={Neurology},
  year={1993},
  volume={43 11},
  pages={2179-83}
}
Friedreich's ataxia (FA) is an autosomal recessive neurodegenerative disorder, the disease locus (FRDA) of which has been assigned to 9q13-q21.1 by genetic linkage analysis in affected families. We report two large inbred Tunisian families with FA manifestations that did not show the expected linkage. The disease locus could be excluded from a large (12 cMo) region around FRDA. This is the first report providing evidence for nonallelic genetic heterogeneity for the FA clinical phenotype. On… CONTINUE READING

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