Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation
| Autor: | R.A. Gatti, K. Roddier, Antoine Duquette, S.A. Nahas, Bernard Brais |
|---|---|
| Rok vydání: | 2007 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Ataxia genetic structures Adolescent Apraxias DNA Mutational Analysis Biology medicine.disease_cause Compound heterozygosity Apraxia Cell Line Colony-Forming Units Assay Ocular Motility Disorders Neoplasms Radiation Ionizing medicine Missense mutation Humans Genetic Predisposition to Disease Radiosensitivity Lymphocytes Oculomotor apraxia Child Genetics (clinical) Genetics Mutation DNA Helicases Quebec medicine.disease Prognosis Multifunctional Enzymes Neurology Pediatrics Perinatology and Child Health Cancer research Spinocerebellar ataxia Neurology (clinical) alpha-Fetoproteins medicine.symptom RNA Helicases |
| Zdroj: | Neuromuscular disorders : NMD. 17(11-12) |
| ISSN: | 0960-8966 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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