ataxia with oculomotor apraxia type 2
ataxia with oculomotor apraxia type 2An autosomal recessive condition characterised by onset between age 3 and 30, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated serum alpha-fetoprotein.
Ataxia-telangiectasia, ataxia with oculomotor apraxia type 1.
Supportive—e.g., physical therapy for disabilities due to peripheral neuropathy, assistive devices as needed, educational support.
Defect in SETX on chromosome 9q34, which encodes senataxin, a protein with putative helicase activity required for the processing of diverse RNA species, including transfer RNA, ribosomal RNA, small nuclear RNA and small nucleolar RNA.