Ataxia with Oculomotor Apraxia

There are two forms of recessive ataxia with oculomotor (muscles of eye movement) apraxia (difficulty in executing movement).

AOA1- is often associated with other types of movement problems (chorea), neuropathy, and rarely changes in learning and memory. Symptoms of AOA1 usually develop early in childhood. Individuals with AOA1 may have high levels of cholesterol and low levels of a substance called “albumin” in their blood. AOA1 is an autosomal recessive form of ataxia caused by sequence changes in a gene called “APTX.” In order to confirm a diagnosis of AOA1, sequence changes must be found in both copies of the gene. Carrier testing for family members may be available if sequence changes are identified in the individual with ataxia.

AOA2- Usually has a later age of onset as compared to AOA1. Onset is still usually before 20 years of age. Individuals often have a high level of a protein called “Alpha Feto Protein or AFP” in their blood. Individuals with AOA2 may have problems with abnormal posture (dystonia), twitching movements (chorea), in addition to ataxia. Neuropathy is often found in this condition. AOA2 is an autosomal recessive condition caused by sequence changes in a gene called “SETX.” In order to confirm a diagnosis of AOA2, sequence changes must be found in both copies of the gene. Carrier testing for family members may be available if sequence changes are identified in the individual with ataxia.