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NEUROLOGY 1993;43:2179
© 1993 American Academy of Neurology

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

M. Ben Hamida, MD, S. Belal, MD, G. Sirugo, MD, PhD, C. Ben Hamida, PhD, K. Panayides, MSc, P. Ionannou, PhD, J. Beckmann, PhD, J. L. Mandel, MD, PhD, F. Hentati, MD, M. Koenig, MD, PhD and L. Middleton, MD

Institut National de Neurologie (Drs. M. Ben Hamida, Belal, C. Ben Hamida, and Hentati), Tunis, Tunisia; the Cyprus Institute of Neurology and Genetics (Drs. Ionannou and Middleton, and K. Panayides), Nicosia, Cyprus; LGME-CNRS, U184-INSERM, Institut de Chimie Biologique (Drs. Sirugo, Mandel, and Koenig), Faculté de Médecine, Strasbourg, France; and the CEPH Centre d'Etudes du Polymorphisme Humain (Dr. Beckmann), Pans, France.

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 subsequent analysis, all patients had very low levels of serum vitamin E whereas the parents and healthy sibs had normal vitamin E levels. This establishes that the selective vitamin E deficiency with normal fat absorption is an autosomal recessive trait, which is associated in the two families reported here with the FA phenotype.

Address correspondence and reprint requests to Professor Mongi Ben Hamida, Institut National de Neurologie, La Rabta 1007 Tunis, Tunisia.

Supported by la Fondation Nationale de la Recherche Scientifique (Tunisia), la Coopération Tuniso-française (Projet des Maladies Neuro-musculaires), Muscular Dystrophy Association (MDA), Association Française contre la Myopathie (AFM), and Association des Myopathes de Tunisie (AMT).

Received December 21, 1992. Accepted for publication in final form April 22, 1993.




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