ataxia with oculomotor apraxia type 2

ataxia with oculomotor apraxia type 2

An autosomal recessive condition characterised by onset between age 3 and 30, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated serum alpha-fetoprotein.
 
DiffDx
Ataxia-telangiectasia, ataxia with oculomotor apraxia type 1.

Management
Supportive—e.g., physical therapy for disabilities due to peripheral neuropathy, assistive devices as needed, educational support.
 
Molecular pathology
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.
References in periodicals archive ?
21 showed a heterozygous deletion of exons 16-24 in SETX, confirming the diagnosis of autosomal recessive ataxia with oculomotor apraxia type 2 (AOA2).

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