Role Of Senataxin In Protecting Against Neurodegeneration
Funder
National Health and Medical Research Council
Funding Amount
$539,773.00
Summary
A number of rare autosomal recessive ataxias have been described that overlap in their clinical phenotype. A subgroup of these have in common a reduced capacity to deal with damage to the genome which is associated with neurodegeneration. We are characterising the protein (senataxin) defective in one of these syndromes, ataxia oculomotor apraxia type 2 (AOA2). We have generated a mouse model of setx the gene coding for senataxin which will assist in our understanding of this disease.