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References OMIM Gene GeneReviews HGMD HGNC
last update : 06-07-2022
Symbol AOA2
Location 9q34.13
Name ataxia-ocular apraxia 2, early onset
Other name(s)
  • spinocerebellar ataxia, recessive, non-Friedreich type 1
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • Corresponding gene SETX
    Other symbol(s) SCAR1, SCAN2
    Main clinical features
  • characterized by oculo-motor apraxia, progressive ataxia, with cerebellar atrophia, choreoathetosis, sensory loss, absence of tendon reflexes, pyramidal weakness with/without mental retardation
  • associated with an axonal motor neuropathy, an hypoalbuminemia and elevated alpha-fetoprotein
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name transcriptional transactivator SETX1
    Remark(s) AOA2 cells exhibited constitutive oxidative DNA damage and enhanced chromosomal instability in response to H2O2 (Suraweera 2007)