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  • Title: Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation.
    Author: Nahas SA, Duquette A, Roddier K, Gatti RA, Brais B.
    Journal: Neuromuscul Disord; 2007 Dec; 17(11-12):968-9. PubMed ID: 17720498.
    Abstract:
    Mutations in senataxin have been described recently in 24 cases of French-Canadian descent with ataxia-oculomotor apraxia 2. This recessive ataxia is associated with an elevation in alpha-fetoprotein as in ataxia-telangiectasia. Because ataxia-telangiectasia cells are highly radiosensitive, we used a colony survival assay to measure the radiosensitivity of lymphoblastoid cell lines derived from five French-Canadian patients with ataxia-oculomotor apraxia 2. Two were homozygous for the common French-Canadian L1976R SETX missense mutation; the three others were compound heterozygotes for the common mutation and three different missense mutations. Overall, lymphoblastoid cell lines derived from these cases did not show significant variation from a normal response to 1 Gray of ionizing radiation but the two patients who were homozygous for the common L1976R mutation fell in the intermediate or non-diagnostic range.
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