Ataxia with oculomotor apraxia Type 2 (AOA2) is a hereditary ataxia.


Inheritance: autosomal recessive or sporadic


Gene affected: senataxin (SETX)


Chromosome location: 9q34


Clinical features:

(1) onset during adolescence

(2) slowly progressive cerebellar ataxia, which usually presents with gait ataxia

(3) oculomotor apraxia and/or convergent strabismus

(4) axonal polyneuropathy


Laboratory findings:

(1) elevation in serum alpha-fetoprotein (AFP)


Imaging findings:

(1) Cerebellar atrophy may be present at symptom onset or develop over time.


Differential diagnosis:

(1) paraneoplastic syndrome

(2) other hereditary ataxia (Friedreich's ataxia, etc)


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