Inventors:
Corey D. Braastad - Southampton MA, US
Narasimhan Nagan - South Grafton MA, US
Jeffrey G. Jones - Wilbraham MA, US
William K. Seltzer - Holden MA, US
Susan Allen - Worcester MA, US
Sat Dev Batish - New York NY, US
Hui Zhu - Belmont MA, US
Assignee:
Athena Diagnostics, Inc. - Worcester MA
International Classification:
C12Q 1/68
Abstract:
Methods of identifying polymorphisms associated with ataxia-ocular apraxia 2 (AOA2), are described. The polymorphisms associated with AOA2 include specific mutations in the senataxin (SETX) gene. Also described are methods of diagnosis of AOA2, as well as methods of assessing an individual for carrier status for AOA2.