Two novel mutations of the SETX gene and ataxia with oculomotor apraxia type 2

Ataxia with oculomotor apraxia type 2 (AOA2, OMIM#606002) s a rare autosomal recessive progressive ataxia characterized by arly onset (childhood to young adulthood), cerebellar ataxia, culomotor apraxia and axonal sensorimotor neuropathy. Typcal biochemical findings include elevated -fetoprotein (AFP) erum levels. The genetic cause of AOA2 is a mutated SETX gene OMIM#608465) encoding senataxin [1]. In this report we describe the first Polish patient with an AOA2 henotype caused by two novel SETX mutations.