Abstract
Ataxia with oculomotor apraxia-type 2 (AOA2) is an autosomal recessive disorder due to mutations in the senataxin gene causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, oculomotor apraxia, and elevated alpha-fetoprotein (AFP) serum levels. The onset of the disease is usually between ages 12 and 20. The increase in AFP level as well as cerebellar atrophy seems to be stable during the course of the disease and to occur mostly at or before disease onset. The clinical phenotype is characterized by progressive cerebellar ataxia, sensorimotor peripheral neuropathy, oculomotor apraxia in 51% of cases, strabismus, chorea, and dystonia. Frontal executive dysfunction may be disturbed. Premature ovarian failure has been reported in some patients.
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