Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation.

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.

• Authors: S A Nahas, A Duquette, K Roddier, R A Gatti, B Brais
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 17 Issue 11-12 Pg. 968-9 (Dec 2007) ISSN: 0960-8966 [Print] England
• PMID: 17720498 (Publication Type: Journal Article)

Chemical References

• Multifunctional Enzymes
• alpha-Fetoproteins
• SETX protein, human
• DNA Helicases
• RNA Helicases

Topics

• Adolescent
• Apraxias (diagnosis, genetics, immunology)
• Ataxia (diagnosis, genetics, immunology)
• Cell Line
• Child
• Colony-Forming Units Assay (methods)
• DNA Helicases
• DNA Mutational Analysis
• Genetic Predisposition to Disease (genetics)
• Humans
• Lymphocytes (physiology, radiation effects)
• Multifunctional Enzymes
• Mutation (genetics)
• Neoplasms (diagnosis, genetics)
• Ocular Motility Disorders (diagnosis, genetics, immunology)
• Prognosis
• Quebec (ethnology)
• RNA Helicases (genetics)
• Radiation, Ionizing
• alpha-Fetoproteins (genetics)