1. Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation.
- Author
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Nahas SA, Duquette A, Roddier K, Gatti RA, and Brais B
- Subjects
- Adolescent, Apraxias genetics, Apraxias immunology, Ataxia genetics, Ataxia immunology, Cell Line, Child, Colony-Forming Units Assay methods, DNA Helicases, DNA Mutational Analysis, Genetic Predisposition to Disease genetics, Humans, Lymphocytes physiology, Lymphocytes radiation effects, Multifunctional Enzymes, Mutation genetics, Neoplasms diagnosis, Neoplasms genetics, Ocular Motility Disorders genetics, Ocular Motility Disorders immunology, Prognosis, Quebec ethnology, RNA Helicases genetics, Radiation, Ionizing, alpha-Fetoproteins genetics, Apraxias diagnosis, Ataxia diagnosis, Ocular Motility Disorders diagnosis
- 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.
- Published
- 2007
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