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Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous lebanese family

Authors

  • Valérie Delague PhD,

    1. Unité de Génétique Médicale, Laboratoire de Génétique Moléculaire, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon
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  • Corinne Bareil PhD,

    1. Laboratoire de Génétique Moléculaire, Institut de Biologie, Montpellier, France
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  • Patrice Bouvagnet MD, PhD,

    1. Laboratoire de Génétique Moléculaire Humaine, Université Claude Bernard, Lyon, France
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  • Nabiha Salem MA,

    1. Unité de Génétique Médicale, Laboratoire de Génétique Moléculaire, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon
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  • Eliane Chouery MA,

    1. Unité de Génétique Médicale, Laboratoire de Génétique Moléculaire, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon
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  • Jacques Loiselet MD, PhD,

    1. Unité de Génétique Médicale, Laboratoire de Génétique Moléculaire, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon
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  • André Mégarbané MD, PhD,

    Corresponding author
    1. Unité de Génétique Médicale, Laboratoire de Génétique Moléculaire, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon
    • Unité de Génétique Médicale. Faculté de Médecine, Université Saint-Joseph, 42, rue de Grenelle. 75007 Paris, France
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  • Mireille Claustres MD, PhD

    1. Laboratoire de Génétique Moléculaire, Institut de Biologie, Montpellier, France
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Abstract

Congenital ataxias are a heterogeneous group of predominantly nonprogressive disorders characterized by hypotonia, developmental delay followed by the appearance of ataxia, and often associated with dysarthria, mental retardation, and atrophy of the cerebellum. We performed a genome-wide screen on a large inbred Lebanese family presenting a nonprogressive autosomal recessive congenital cerebellar ataxia associated with short stature (MIM 213200), already described by Mégarbané and colleagues.1 The disease locus was assigned to a 12.1 cM interval on chromosome 9q34-9qter between D9S67 and D9S312. Differential diagnosis with other hereditary ataxias linked to the same region is discussed.

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