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. 1995 May;56(5):1116–1124.

Ataxia with Vitamin E Deficiency: Refinement of Genetic Localization and Analysis of Linkage Disequilibrium by Using New Markers in 14 Families

Nathalie Doerflinger, Catherine Linder, Karim Ouahchi, Gabor Gyapay, Jean Weissenbach, Denis Le Paslier, Philippe Rigault, Samir Belal, Christiane Ben Hamida, Faycal Hentati, Mongi Ben Hamida, Massimo Pandolfo, Stephano DiDonato, Ronald Sokol, Herbert Kayden, Pierre Landrieu, Alexandra Durr, Alexis Brice, Françoise Goutières, Alfried Kohlschütter, Pascal Sabouraud, Ali Benomar, Mohamed Yahyaoui, Jean-Louis Mandel, Michel Koenig
PMCID: PMC1801469  PMID: 7726167

Abstract

Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disease characterized clinically by neurological symptoms with often striking resemblance to those of Friedreich ataxia. This disorder has been reported previously as familial isolated vitamin E deficiency. We have mapped recently the AVED locus to a 5-cM confidence interval on chromosome 8q by homozygosity mapping in six Mediterranean families. We have now analyzed six new and two previously described families and demonstrate genetic homogeneity despite important clinical variability and wide geographic origins. Analysis of nine new tightly linked microsatellite markers, including four characterized in this study, revealed a predominant but not unique mutation in northern African populations, where this condition is more frequent. Haplotype analysis but also classical recombinations allowed us to refine the AVED position to a 1-cM interval. A YAC contig over this interval was constructed from marker STSs and YAC fingerprint data, in order to facilitate the search of the AVED gene.

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Selected References

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