Methods of detecting mutations associated with ataxia-ocular apraxia 2 (AOA2)

A method of diagnosing ataxia-ocular apraxia 2 (AOA2) in a human individual, comprising:

• detecting in a test sample from a human individual at least one mutation of interest in a first allele of a senataxin (SETX) gene comprising SEQ ID NO:1, wherein the at least one mutation of interest results in a premature STOP codon causing truncation of the encoded SETX protein,
• wherein one mutation of interest is a single base transition C→T at position 4234 of the SETX gene
• detecting at least one mutation of interest in the second allele of the SETX gene;
• and
• diagnosing the human individual as having AOA2 when the single base transition C→T at position 4234 is detected and when the at least one mutation of interest is detected in the second allele of the SETX gene.

A method of assessing a human individual for carrier status for ataxia-ocular apraxia 2 (AOA2), comprising:

• detecting in a test sample from a human individual at least one mutation of interest in a first allele of the senataxin (SETX) gene comprising SEQ ID NO:
• 1 of the individual, wherein the at least one mutation of interest comprises a single base transition C-T at position 4234;
• detecting the absence of the at least one mutation of interest in the second allele of the SETX gene,
• wherein the presence of the at least one mutation of interest in the first allele of the senataxin gene, and the absence of the at least one mutation of interest in the second allele of the senataxin gene, is indicative of carrier status for ataxia-ocular apraxia 2.