Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 01-09-2015
Symbol SPAX5
Location 18p11.21
Name ataxia, spastic, 5, autosomal recessive
Corresponding gene AF3GL2
Main clinical features
  • neurodegenerative disorder characterized by early-onset spasticity resulting in significantly impaired ambulation, cerebellar ataxia, oculomotor apraxia, dystonia, and myoclonic epilepsy
  • early-onset spinocerebellar ataxia with spasticity and myoclonic epilepsy
  • brain MRI showed moderate cerebellar atrophy, and nerve conduction studies showed an axonal sensorimotor neuropathy of the lower extremities
  • electron microscopy of skeletal muscle showed misplaced mitochondria associated with large lipid droplets, and there was decreased mtDNA copy number
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease