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last update : 20-05-2015
Symbol SPAX3
Location 2q33.1
Name spastic ataxia 3
Other name(s) autosomal recessive spastic ataxia with leukoencephalopathy
Corresponding gene MARS2
Other symbol(s) ARSAL
Main clinical features
  • spastic ataxia and brain white matter changes
  • onset with a mean age of 15 years, ataxic gait, spasticity, and hyperreflexia, urinary urgency, dysarthria, dystonic positioning, mild horizontal nystagmus, scoliosis, and mild hearing impairment
  • neuroimaging studies showed cerebellar atrophy in all patients and cerebral atrophy in 43 p100 patients
  • Genetic determination autosomal recessive
    Function/system disorder
    Type disease
    Remark(s) . MARS2 duplications may dysregulate transcription, possibly by affecting the size, composition, or methylation ability of the CpG islands (PMID: 22448145))
  • reduced levels of MARS2 protein in humans result in aberrant translation of the Respiratory Chain and concomitant production of ROS (PMID: 22448145))