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GENATLAS PHENOTYPE
last update : 20-12-2011
Symbol AOA1
Location 9p21.1
Name ataxia-ocular apraxia 1
Corresponding gene APTX
Other symbol(s) AOA, ATL, EAOH
Main clinical features
  • early onset, characterized by ocular apraxia, progressive ataxia, choreoathetosis, sensory loss, absence of tendon reflexes, pyramidal weakness, with/without mental retardation
  • early onset cerebellar ataxia, and severe cerebellar atrophy is prominent (PMID: 21502511))
  • associated with an axonal motor neuropathy and an hypocholesterolemia and hypoalbuminemia slow progressive course, and on MRI cerebellar atrophy
  • neuropathological examination reveals severe loss of Purkinje cells and moderate neuronal loss in the anterior horn and dorsal root ganglia (PMID: 20687492))
    • Genetic determination autosomal recessive
    Function/system disorder eye
    neurology
    Type disease
    Gene product
    Name aprataxin APTX
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   truncated protein accumulation of unrepaired damaged DNA
    frameshift   abnormal protein/loss of function  
    Remark(s) . loss of function of APTX results in the accumulation of DNA single-strand breaks , consequently leading to neuronal cell dysfunction and death (PMID: 20687492))